LIVIVO - Search results -

Search results

Result 1 - 10 of total 14

Search options

Article: To Test or Not to Test: Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures.

Wysocka, Urszula / Sałacińska, Kinga / Pinkier, Iwona / Kępczyński, Łukasz / Ałaszewski, Wojciech / Dudarewicz, Lech / Gach, Agnieszka

Journal of clinical medicine

2023 Volume 12, Issue 24

Abstract: Background: Recurrent reproductive failure is a global health issue affecting a significant number of women. Thrombophilias have been implicated as a possible cause. Inherited thrombophilias include a single nucleotide variant on factor V Leiden and ... ...

Abstract	Background: Recurrent reproductive failure is a global health issue affecting a significant number of women. Thrombophilias have been implicated as a possible cause. Inherited thrombophilias include a single nucleotide variant on factor V Leiden and prothrombin. Objective: The aim of this study was to evaluate the association between the following single nucleotide variants: factor V Leiden (c.1601G>A), the prothrombin gene (c.97G>A) and the reproductive failure in the Polish population. Methods:* The study was conducted in a group of 545 patients with recurrent pregnancy loss, RPL (≥2 miscarriages), and in a group of 641 patients with infertility. The distribution of genotypes for the selected variants were determined by RFLP-PCR and by the real-time PCR method. Results: A variant of the Conclusions: Recommendations for routine thrombophilia testing in women with recurrent miscarriages should be revisited. The decision regarding testing should be made individually depending on additional factors indicating an increased risk of venous thromboembolism.
Language	English
Publishing date	2023-12-06
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm12247527
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Article: Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.

Stembalska, Agnieszka / Dudarewicz, Lech / Śmigiel, Robert

Advances in clinical and experimental medicine : official organ Wroclaw Medical University

2021 Volume 30, Issue 6, Page(s) 641–647

Abstract: Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups. The incidence of all skeletal dysplasias is more ... ...

Abstract	Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups. The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better management. It is possible to use prenatal ultrasonography to observe predictors of lethality, such as a bell-shaped thorax, short ribs, severe femoral shortening, and decreased lung volume. Individual lethal or life-limiting dysplasias may have more or less specific features on prenatal ultrasound. The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, and campomelic dysplasia, are discussed in this article. Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia, are also discussed.
MeSH term(s)	Female ; Humans ; Infant, Newborn ; Osteochondrodysplasias ; Osteogenesis Imperfecta ; Pregnancy ; Receptor, Fibroblast Growth Factor, Type 3 ; Thanatophoric Dysplasia ; Ultrasonography, Prenatal
Chemical Substances	Receptor, Fibroblast Growth Factor, Type 3 (EC 2.7.10.1)
Language	English
Publishing date	2021-05-20
Publishing country	Poland
Document type	Journal Article ; Review
ZDB-ID	2270257-X
ISSN	1899-5276 ; 1230-025X
ISSN	1899-5276 ; 1230-025X
DOI	10.17219/acem/134166
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 6489: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: To Test or Not to Test

Urszula Wysocka / Kinga Sałacińska / Iwona Pinkier / Łukasz Kępczyński / Wojciech Ałaszewski / Lech Dudarewicz / Agnieszka Gach

Journal of Clinical Medicine, Vol 12, Iss 24, p

Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures

2023 Volume 7527

Abstract	Background: Recurrent reproductive failure is a global health issue affecting a significant number of women. Thrombophilias have been implicated as a possible cause. Inherited thrombophilias include a single nucleotide variant on factor V Leiden and prothrombin. Objective: The aim of this study was to evaluate the association between the following single nucleotide variants: factor V Leiden (c.1601G>A), the prothrombin gene (c.*97G>A) and the reproductive failure in the Polish population. Methods: The study was conducted in a group of 545 patients with recurrent pregnancy loss, RPL (≥2 miscarriages), and in a group of 641 patients with infertility. The distribution of genotypes for the selected variants were determined by RFLP-PCR and by the real-time PCR method. Results: A variant of the F5 gene was found in 5.14% of patients with RPL and in 6.08% of infertile women. A variant of the F2 gene was identified in 0.73% of patients with RPL and in 2.03% of women with infertility. The frequency in the study groups did not differ from that in the general population. No association between the studied variants of the F5 gene or the F2 gene and the predisposition to reproductive wastage was found. Conclusions: Recommendations for routine thrombophilia testing in women with recurrent miscarriages should be revisited. The decision regarding testing should be made individually depending on additional factors indicating an increased risk of venous thromboembolism.
Keywords	recurrent pregnancy loss (RPL) ; thrombophilia ; factor V ; prothrombin ; Medicine ; R
Subject code	610
Language	English
Publishing date	2023-12-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in

Stembalska, Agnieszka / Rydzanicz, Małgorzata / Klaniewska, Magdalena / Dudarewicz, Lech / Pollak, Agnieszka / Biela, Mateusz / Stawinski, Piotr / Ploski, Rafal / Smigiel, Robert

Genes

2022 Volume 13, Issue 8

Abstract: Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and development of skeletal structures. The high clinical and genetic diversity in SDs cause ... ...

Abstract	Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and development of skeletal structures. The high clinical and genetic diversity in SDs cause difficulties in prenatal diagnosis. To establish a correct prognosis and better management, it is very important to distinguish SDs with poor life-limiting prognosis or lethal SDs from other ones. Bad prognosis in foetuses is assessed on the basis of the size of the thorax, lung volumes, long bones’ length, bones’ echogenicity, bones’ angulation or presented fractures, and the concomitant presence of non-immune hydrops or visceral abnormalities. To confirm SD diagnosis and perform family genetic consultation, rapid molecular diagnostics are needed; therefore, the NGS method using a panel of genes corresponding to SD or whole-exome sequencing (WES) is commonly used. We report a case of a foetus showing long bones’ shortening and a narrow chest with short ribs, diagnosed prenatally with asphyxiating thoracic dystrophy, also known as Jeune syndrome (ATD; OMIM 208500), caused by compound heterozygous variants in the DYNC2H1 gene, identified by prenatally performed rapid-WES analysis. The missense variants in the DYNC2H1 gene were inherited from the mother (c.7289T>C; p.Ile2430Thr) and from the father (c.12716T>G; p.Leu4239Arg). The DYNC2H1 gene is one of at least 17 ATD-associated genes. This disorder belongs to the ninth group of SD, ciliopathies with major skeletal involvement. An extremely narrow, bell-shaped chest, and abnormalities of the kidneys, liver, and retinas were observed in most cases of ATD. Next to lethal and severe forms, clinically mild forms have also been reported. A diagnosis of ATD is important to establish the prognosis and management for the patient, as well as the recurrence risk for the family.
MeSH term(s)	Cytoplasmic Dyneins/genetics ; Diagnosis, Differential ; Ellis-Van Creveld Syndrome ; Female ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Exome Sequencing
Chemical Substances	DYNC2H1 protein, human ; Cytoplasmic Dyneins (EC 3.6.4.2)
Language	English
Publishing date	2022-07-27
Publishing country	Switzerland
Document type	Case Reports ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13081339
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

Stembalska, Agnieszka / Rydzanicz, Małgorzata / Klaniewska, Magdalena / Dudarewicz, Lech / Pollak, Agnieszka / Biela, Mateusz / Stawinski, Piotr / Ploski, Rafal / Smigiel, Robert

Genes. 2022 July 27, v. 13, no. 8

2022

Abstract	Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and development of skeletal structures. The high clinical and genetic diversity in SDs cause difficulties in prenatal diagnosis. To establish a correct prognosis and better management, it is very important to distinguish SDs with poor life-limiting prognosis or lethal SDs from other ones. Bad prognosis in foetuses is assessed on the basis of the size of the thorax, lung volumes, long bones’ length, bones’ echogenicity, bones’ angulation or presented fractures, and the concomitant presence of non-immune hydrops or visceral abnormalities. To confirm SD diagnosis and perform family genetic consultation, rapid molecular diagnostics are needed; therefore, the NGS method using a panel of genes corresponding to SD or whole-exome sequencing (WES) is commonly used. We report a case of a foetus showing long bones’ shortening and a narrow chest with short ribs, diagnosed prenatally with asphyxiating thoracic dystrophy, also known as Jeune syndrome (ATD; OMIM 208500), caused by compound heterozygous variants in the DYNC2H1 gene, identified by prenatally performed rapid-WES analysis. The missense variants in the DYNC2H1 gene were inherited from the mother (c.7289T>C; p.Ile2430Thr) and from the father (c.12716T>G; p.Leu4239Arg). The DYNC2H1 gene is one of at least 17 ATD-associated genes. This disorder belongs to the ninth group of SD, ciliopathies with major skeletal involvement. An extremely narrow, bell-shaped chest, and abnormalities of the kidneys, liver, and retinas were observed in most cases of ATD. Next to lethal and severe forms, clinically mild forms have also been reported. A diagnosis of ATD is important to establish the prognosis and management for the patient, as well as the recurrence risk for the family.
Keywords	cartilage ; chest ; diagnostic techniques ; edema ; fetus ; genes ; genetic variation ; growth and development ; heterozygosity ; liver ; lungs ; patients ; prognosis ; risk ; ultrasonography
Language	English
Dates of publication	2022-0727
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13081339
Database	NAL-Catalogue (AGRICOLA)

Order via subito

Article ; Online: Association between idiopathic recurrent pregnancy loss and genetic polymorphisms in cytokine and matrix metalloproteinase genes.

Wysocka, Urszula / Sakowicz, Agata / Jakubowski, Lucjusz / Pinkier, Iwona / Rybak-Krzyszkowska, Magda / Alaszewski, Wojciech / Dudarewicz, Lech / Gach, Agnieszka

Ginekologia polska

2021

Abstract: Objectives: Recurrent reproductive loss (RPL) is a global health issue affecting a significant number of women. Approximately half of miscarriages have an unexplained etiology. Familial aggregation and twins studies prove that some cases of the RPL ... ...

Abstract	Objectives: Recurrent reproductive loss (RPL) is a global health issue affecting a significant number of women. Approximately half of miscarriages have an unexplained etiology. Familial aggregation and twins studies prove that some cases of the RPL could have a genetic background. Recent evidences suggest that cytokines (e.g. IL-6, TNF alpha or TGF beta) and matrix metalloproteinases (MMP) are important for maintenance of pregnancy. Single gene polymorphisms (SNP), affecting these proteins production or their function may predispose to the loss of the pregnancy. The aim of this study was to evaluate the association between the following polymorphisms of IL6 (rs1800795), TNF (rs1800629), TGFB1 (rs1800471), MMP1 (rs1799750), MMP2 (rs2285053 and rs243865), MMP3 (rs35068180), MMP9 (rs3918242) and the recurrent pregnancy loss in polish population. Material and methods: Study subjects comprised of 67 patients with a history of recurrent pregnancy loss (≥ 2 miscarriages in history) and 75 controls. The distribution of genotypes for selected polymorphisms were determined by RFLP-PCR. Results: Maternal genotypes GG TNF, or 5A/5A MMP3 may be associated with the recurrent pregnancy loss. No association between the IL6, TGFB1, MMP1, MMP2, or MMP9 studied polymorphisms and the predisposition to miscarriage was found. Conclusions: This study demonstrated a possible association between rs1800629 TNF, rs35068180 MMP3 polymorphisms and recurrent pregnancy loss.
Language	English
Publishing date	2021-04-29
Publishing country	Poland
Document type	Journal Article
ZDB-ID	130894-4
ISSN	2543-6767 ; 0017-0011
ISSN (online)	2543-6767
ISSN	0017-0011
DOI	10.5603/GP.a2021.0089
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 118: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Null variants in AGRN cause lethal fetal akinesia deformation sequence.

Geremek, Maciej / Dudarewicz, Lech / Obersztyn, Ewa / Paczkowska, Magdalena / Smyk, Marta / Sobecka, Katarzyna / Nowakowska, Beata

Clinical genetics

2019 Volume 97, Issue 4, Page(s) 634–638

Abstract: We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3-36 exons of AGRN. Pathogenic variants in AGRN have been described in families with a form of congenital ... ...

Abstract	We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3-36 exons of AGRN. Pathogenic variants in AGRN have been described in families with a form of congenital myasthenic syndrome (CMS), manifesting in the early childhood with variable fatigable muscle weakness. To the best of our knowledge, this is the first case of FADS caused by defects in AGRN gene. FADS has been reported to be caused by pathogenic variants in genes previously associated with CMS including these involved in endplate development and maintenance: MuSK, DOK7, and RAPSN. FADS seems to be the most severe form of CMS. None of the reported in the literature CMS cases associated with AGRN had two null variants, like the case presented herein. This indicates a strong genotype-phenotype correlation.
MeSH term(s)	Adult ; Agrin/genetics ; Arthrogryposis/diagnostic imaging ; Arthrogryposis/genetics ; Arthrogryposis/pathology ; Child ; Female ; Fetus/diagnostic imaging ; Fetus/pathology ; Genes, Lethal/genetics ; Humans ; Male ; Mutation/genetics ; Myasthenic Syndromes, Congenital/genetics ; Myasthenic Syndromes, Congenital/pathology ; Pedigree ; Pregnancy
Chemical Substances	Agrin
Language	English
Publishing date	2019-12-11
Publishing country	Denmark
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.13677
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 413: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.

Kucińska-Chahwan, Anna / Geremek, Maciej / Roszkowski, Tomasz / Bijok, Julia / Massalska, Diana / Ciebiera, Michał / Correia, Hildeberto / Pereira-Caetano, Iris / Barreta, Ana / Obersztyn, Ewa / Kutkowska-Kaźmierczak, Anna / Własienko, Paweł / Krajewska-Walasek, Małgorzata / Węgrzyn, Piotr / Dudarewicz, Lech / Krzeszowski, Waldemar / Rybak-Krzyszkowska, Magda / Nowakowska, Beata

Genes

2022 Volume 13, Issue 5

Abstract: Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now ... ...

Abstract	Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving from prenatal testing. The aim of our study was to present initial results of the implementation of ES to prenatal diagnosis in Polish patients and to discuss its possible clinical impact on genetic counseling. Methods: In this study we performed a retrospective review of all fetal samples referred to our laboratory for ES from cooperating centers between January 2017 and June 2021. Results: During the study period 122 fetuses were subjected to ES at our institution. There were 52 abnormal ES results: 31 in the group of fetuses with a single organ system anomaly and 21 in the group of fetuses with multisystem anomalies. The difference between groups was not statistically significant. There were 57 different pathogenic or likely pathogenic variants reported in 33 different genes. The most common were missense variants. In 17 cases the molecular diagnosis had an actual clinical impact on subsequent pregnancies or other family members. Conclusions: Exome sequencing increases the detection rate in fetuses with structural anomalies and improves genetic counseling for both the affected couple and their relatives.
MeSH term(s)	Exome/genetics ; Female ; Genetic Counseling ; Humans ; Poland ; Pregnancy ; Prenatal Diagnosis/methods ; Whole Exome Sequencing/methods
Language	English
Publishing date	2022-04-21
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes13050724
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Real-time quantitative PCR for the detection of fetal aneuploidies.

Zimmermann, Bernhard G / Dudarewicz, Lech

Methods in molecular biology (Clifton, N.J.)

2008 Volume 444, Page(s) 95–109

Abstract: In prenatal analysis, one of the major concerns is the detection of fetal aneuploidies. Several molecular methods have been described recently for the rapid analysis of amniotic fluid and chorionic villi. Fluorescence in situ hybridization (FISH) and ... ...

Abstract	In prenatal analysis, one of the major concerns is the detection of fetal aneuploidies. Several molecular methods have been described recently for the rapid analysis of amniotic fluid and chorionic villi. Fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) of short tandem repeats are already implemented in prenatal laboratories and permit the evaluation of the major chromosomal aberrations within 24 h. However, both methods have their disadvantages. The advent of real-time PCR has revolutionized the measurement of nucleic acid copy numbers in recent years. Quantitative PCR, a term that was only 10 years ago considered to be an oxymoron, is now widely accepted. We demonstrated previously the feasibility of detection of trisomy 21 by real-time PCR, and here we describe the modified test that permits simultaneous analysis of trisomies 18 and 21. This approach has been demonstrated in a recent large-scale analysis, and it is presented in detail in this chapter.
MeSH term(s)	Amniocentesis ; Chromosomes, Human, Pair 18 ; Down Syndrome/diagnosis ; Down Syndrome/genetics ; Female ; Gene Expression Regulation, Developmental ; Genetic Testing ; Humans ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis/methods ; Time Factors ; Trisomy/diagnosis ; Trisomy/genetics
Language	English
Publishing date	2008
Publishing country	United States
Document type	Journal Article
ISSN	1064-3745
ISSN	1064-3745
DOI	10.1007/978-1-59745-066-9_7
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- Full text online
- Order with fees

Article ; Online: Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

Walczak-Sztulpa, Joanna / Wawrocka, Anna / Stańczyk, Małgorzata / Pesz, Karolina / Dudarewicz, Lech / Chrul, Sławomir / Bukowska-Olech, Ewelina / Wieczorek-Cichecka, Nina / Arts, Heleen H / Oud, Machteld M / Śmigiel, Robert / Grenda, Ryszard / Obersztyn, Ewa / Chrzanowska, Krystyna H / Latos-Bieleńska, Anna

American journal of medical genetics. Part A

2021 Volume 185, Issue 4, Page(s) 1195–1203

Abstract: Cranioectodermal dysplasia (CED) is a rare autosomal recessive disorder primarily characterized by craniofacial, skeletal, and ectodermal abnormalities. CED is a chondrodysplasia, which is part of a spectrum of clinically and genetically heterogeneous ... ...

Abstract	Cranioectodermal dysplasia (CED) is a rare autosomal recessive disorder primarily characterized by craniofacial, skeletal, and ectodermal abnormalities. CED is a chondrodysplasia, which is part of a spectrum of clinically and genetically heterogeneous diseases that result from disruptions in cilia. Pathogenic variants in genes encoding components of the ciliary transport machinery are known to cause CED. Intra- and interfamilial clinical variability has been reported in a few CED studies and the findings of this study align with these observations. Here, we report on five CED patients from four Polish families with identical compound heterozygous variants [c.1922T>G p.(Leu641Ter) and c.2522A>T; p.(Asp841Val)] in WDR35. The frequent occurrence of both identified changes in Polish CED families suggests that these variants may be founder mutations. Clinical evaluation of the CED patients revealed interfamilial clinical variability among the patients. This includes differences in skeletal and ectodermal features as well as variability in development, progression, and severity of renal and liver insufficiency. This is the first report showing significant interfamilial clinical variability in a series of CED patients from unrelated families with identical compound heterozygous variants in WDR35. Our findings strongly indicate that other genetic and non-genetic factors may modulate the progression and expression of the patients' phenotypes.
MeSH term(s)	Bone and Bones/abnormalities ; Bone and Bones/pathology ; Child ; Child, Preschool ; Cilia/genetics ; Cilia/pathology ; Craniosynostoses/epidemiology ; Craniosynostoses/genetics ; Craniosynostoses/pathology ; Cytoskeletal Proteins/genetics ; Ectodermal Dysplasia/epidemiology ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia/pathology ; Female ; Humans ; Infant ; Intracellular Signaling Peptides and Proteins/genetics ; Male ; Mutation/genetics ; Pedigree ; Phenotype ; Poland/epidemiology
Chemical Substances	Cytoskeletal Proteins ; Intracellular Signaling Peptides and Proteins ; WDR35 protein, human
Language	English
Publishing date	2021-01-09
Publishing country	United States
Document type	Case Reports ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62067
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1376/A: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

To top

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito