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Article ; Online: Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant.

Paller, Mark S / Martin, Cindy M / Pierpont, Mary Ella

2018 Volume 5, Issue 4, Page(s) 724–726

Abstract: Most individuals with cardiomyopathy associated with variants of the LMNA (lamin A) gene present with cardiac conduction abnormalities followed by dilated cardiomyopathy and cardiac failure; some also have skeletal muscle weakness. In this report, an ... ...

Abstract	Most individuals with cardiomyopathy associated with variants of the LMNA (lamin A) gene present with cardiac conduction abnormalities followed by dilated cardiomyopathy and cardiac failure; some also have skeletal muscle weakness. In this report, an individual with restrictive cardiomyopathy presenting with conduction defects followed by cardiac dysfunction of a restrictive nature eventually requiring cardiac transplantation is described. Subsequently, progressive skeletal muscle weakness became evident. The finding of a new LMNA pathologic gene variant in this patient increases the options for genetic testing of individuals with restrictive cardiomyopathy.
MeSH term(s)	Cardiomyopathy, Restrictive/diagnosis ; Cardiomyopathy, Restrictive/genetics ; Cardiomyopathy, Restrictive/metabolism ; DNA/genetics ; DNA Mutational Analysis ; Humans ; Lamin Type A/genetics ; Lamin Type A/metabolism ; Male ; Middle Aged ; Mutation, Missense ; Myocardium/metabolism ; Myocardium/pathology ; Pedigree ; Phenotype
Chemical Substances	Lamin Type A ; DNA (9007-49-2)
Language	English
Publishing date	2018-05-09
Publishing country	England
Document type	Case Reports
ZDB-ID	2814355-3
ISSN	2055-5822 ; 2055-5822
ISSN (online)	2055-5822
ISSN	2055-5822
DOI	10.1002/ehf2.12294
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Article ; Online: Hereditary Angiopathy With Nephropathy, Aneurysm, and Muscle Cramps (HANAC) Syndrome Presenting to Neuro-Ophthalmology With Metamorphopsia.

Jordan, Michael A / Pierpont, Mary Ella / Johnston, Richard H / Lee, Michael S / McClelland, Collin M

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

2019 Volume 39, Issue 4, Page(s) 506–510

MeSH term(s)	Collagen Type IV/genetics ; Female ; Humans ; Middle Aged ; Muscle Cramp/diagnosis ; Muscle Cramp/genetics ; Raynaud Disease/diagnosis ; Raynaud Disease/genetics ; Retinal Hemorrhage/diagnosis ; Retinal Vessels/pathology ; Tomography, Optical Coherence ; Vision Disorders/diagnosis
Chemical Substances	COL4A1 protein, human ; Collagen Type IV
Language	English
Publishing date	2019-08-27
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1189901-3
ISSN	1536-5166 ; 1070-8022
ISSN (online)	1536-5166
ISSN	1070-8022
DOI	10.1097/WNO.0000000000000812
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Article ; Online: Children with Thoracic Aortic Aneurysm: Challenges in Diagnosis and Therapy.

Pierpont, Mary Ella M / Lacro, Ronald V

The Journal of pediatrics

2015 Volume 167, Issue 1, Page(s) 14–16

MeSH term(s)	Aortic Aneurysm, Thoracic/epidemiology ; Female ; Humans ; Male
Language	English
Publishing date	2015-07
Publishing country	United States
Document type	Comment ; Editorial
ZDB-ID	3102-1
ISSN	1097-6833 ; 0022-3476
ISSN (online)	1097-6833
ISSN	0022-3476
DOI	10.1016/j.jpeds.2015.03.056
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Article ; Online: Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

Pierpont, Elizabeth I / Semrud-Clikeman, Margaret / Pierpont, Mary Ella

American journal of medical genetics. Part A

2016 Volume 173, Issue 2, Page(s) 452–459

Abstract: Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome. Here we describe two male patients (ages 16 and 20 years) ... ...

Abstract	Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome. Here we describe two male patients (ages 16 and 20 years) with mutations in MAP2K1 and heterogeneous clinical presentations. Both young men had short stature, some facial features suggesting a RASopathy and minimal cardiac involvement. Detailed medical and neuropsychological findings are presented alongside a comprehensive review of features of patients with MAP2K1 mutations reported in the literature. Published studies have indicated that cognitive functioning of individuals with MAP2K1 mutations can range from severe intellectual disability to mildly below average. Neither of the individuals presented here had severe intellectual disability, and one had intellectual functioning within the average range. Neurodevelopmental concerns that were common among our two patients included fine motor difficulties, slow processing speed, reduced attention span, learning disabilities, and diminished energy/alertness. Taken together, our findings demonstrate that mutations in MAP2K1, which are frequently associated with neurological complications and intellectual disability, can be associated with a milder clinical and neurocognitive profile more typical of individuals with Noonan syndrome. Variability of expression may arise from a complex interplay between RAS/MAPK pathway genotype, epigenetics, medical and obstetric factors, and environmental influences. © 2016 Wiley Periodicals, Inc.
MeSH term(s)	Adaptation, Psychological ; Adolescent ; Alleles ; Amino Acid Substitution ; Ectodermal Dysplasia/diagnosis ; Ectodermal Dysplasia/genetics ; Emotions ; Facies ; Failure to Thrive/diagnosis ; Failure to Thrive/genetics ; Genetic Association Studies ; Genotype ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Humans ; MAP Kinase Kinase 1/genetics ; Male ; Mutation ; Neuropsychological Tests ; Phenotype ; Social Behavior ; Young Adult
Chemical Substances	MAP Kinase Kinase 1 (EC 2.7.12.2) ; MAP2K1 protein, human (EC 2.7.12.2)
Language	English
Publishing date	2016-11-14
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.38044
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Article ; Online: Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.

McNeill, Alana M / Hudock, Rebekah L / Foy, Allison M H / Shanley, Ryan / Semrud-Clikeman, Margaret / Pierpont, Mary Ella / Berry, Susan A / Sommer, Katherine / Moertel, Christopher L / Pierpont, Elizabeth I

American journal of medical genetics. Part A

2019 Volume 179, Issue 12, Page(s) 2433–2446

Abstract: While neurofibromatosis type 1 (NF1) and Noonan syndrome (NS) are clinically distinct genetic syndromes, they have overlapping features because they are caused by pathogenic variants in genes encoding molecules within the Ras-mitogen-activated protein ... ...

Abstract	While neurofibromatosis type 1 (NF1) and Noonan syndrome (NS) are clinically distinct genetic syndromes, they have overlapping features because they are caused by pathogenic variants in genes encoding molecules within the Ras-mitogen-activated protein kinase signaling pathway. Increased risk for emotional and behavioral challenges has been reported in both children and adults with these syndromes. The current study examined parent-report and self-report measures of emotional functioning among children with NF1 and NS as compared to their unaffected siblings. Parents and children with NS (n = 39), NF1 (n = 39), and their siblings without a genetic condition (n = 32) completed well-validated clinical symptom rating scales. Results from parent questionnaires indicated greater symptomatology on scales measuring internalizing behaviors and symptoms of attention deficit hyperactivity disorder (ADHD) in both syndrome groups as compared with unaffected children. Frequency and severity of emotional and behavioral symptoms were remarkably similar across the two clinical groups. Symptoms of depression and anxiety were higher in children who were also rated as meeting symptom criteria for ADHD. While self-report ratings by children generally correlated with parent ratings, symptom severity was less pronounced. Among unaffected siblings, parent ratings indicated higher than expected levels of anxiety. Study findings may assist with guiding family-based interventions to address emotional challenges.
MeSH term(s)	Adolescent ; Age Factors ; Child ; Child Behavior ; Emotions ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/genetics ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Parents ; Phenotype ; Self Report ; Siblings ; Surveys and Questionnaires
Language	English
Publishing date	2019-09-30
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.61361
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Article ; Online: Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.

Pierpont, Elizabeth I / Hudock, Rebekah L / Foy, Allison M / Semrud-Clikeman, Margaret / Pierpont, Mary Ella / Berry, Susan A / Shanley, Ryan / Rubin, Nathan / Sommer, Katherine / Moertel, Christopher L

Journal of neurodevelopmental disorders

2018 Volume 10, Issue 1, Page(s) 21

Abstract: Background: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism ... ...

Abstract	Background: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. Methods: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety. Results: With respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5% of the children with NF1 were rated as having severe social skills impairment (< - 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills. Conclusions: Amidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention.
MeSH term(s)	Adolescent ; Child ; Female ; Humans ; Male ; Neurofibromatosis 1/psychology ; Neuropsychological Tests ; Noonan Syndrome/psychology ; Social Skills
Language	English
Publishing date	2018-06-18
Publishing country	England
Document type	Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2487174-6
ISSN	1866-1955 ; 1866-1947
ISSN (online)	1866-1955
ISSN	1866-1947
DOI	10.1186/s11689-018-9239-8
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Article ; Online: Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.

Westenfield, Kristen / Sarafoglou, Kyriakie / Speltz, Laura C / Pierpont, Elizabeth I / Steyermark, Joan / Nascene, David / Bower, Matthew / Pierpont, Mary Ella

BMC medical genetics

2018 Volume 19, Issue 1, Page(s) 100

Abstract: Background: Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked ... ...

Abstract	Background: Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked oligosaccharide precursor of N-linked glycans. SLC35A2-CDG (previously CDG-IIm) is caused by hemizygous or heterozygous mutations in the X-linked gene SLC35A2 that encodes a UDP-galactose transporter. To date there have only been 10 reported patients with SLC35A2 mutations. Importantly, the patient presented here was not identified in infancy by transferrin isoform analysis, the most common testing to identify patients with a congenital disorder of glycosylation. Case presentation: A 27 month old girl with developmental delay, central hypotonia, cerebral atrophy, and failure to thrive with growth retardation was identified by whole exome sequencing to have a mosaic missense variant in SLC35A2 (c.991G > A). This particular variant has been previously reported in a male as a mutation. Comparison of all clinical findings and new information on growth pattern, growth hormone testing and neurodevelopmental evaluation are detailed on the patient presented. Conclusion: This patient report increases the clinical and scientific knowledge of SLC35A2-CDG, a rare condition. New information on reduced growth, growth hormone sufficiency, lack of seizures, and neurodevelopmental status are presented. This new information will be helpful to clinicians caring for individuals with SLC35A2-CDG. This report also alerts clinicians that transferrin isoform measurements do not identify all patients with congenital disorders of glycosylation.
MeSH term(s)	Child, Preschool ; Congenital Disorders of Glycosylation/genetics ; Congenital Disorders of Glycosylation/pathology ; Female ; Humans ; Monosaccharide Transport Proteins/genetics ; Mosaicism ; Mutation, Missense ; Prognosis
Chemical Substances	Monosaccharide Transport Proteins ; UDP-galactose translocator
Language	English
Publishing date	2018-06-15
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1471-2350
ISSN (online)	1471-2350
DOI	10.1186/s12881-018-0617-6
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Article ; Online: Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Pierpont, Mary Ella / Brueckner, Martina / Chung, Wendy K / Garg, Vidu / Lacro, Ronald V / McGuire, Amy L / Mital, Seema / Priest, James R / Pu, William T / Roberts, Amy / Ware, Stephanie M / Gelb, Bruce D / Russell, Mark W

Circulation

2018 Volume 138, Issue 21, Page(s) e653–e711

Abstract: This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart Association scientific statement on the genetic basis of ... ...

Abstract	This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart Association scientific statement on the genetic basis of congenital heart disease was published, new genomic techniques have become widely available that have dramatically changed our understanding of the causes of congenital heart disease and, clinically, have allowed more accurate definition of the pathogeneses of congenital heart disease in patients of all ages and even prenatally. Information is presented on new molecular testing techniques and their application to congenital heart disease, both isolated and associated with other congenital anomalies or syndromes. Recent advances in the understanding of copy number variants, syndromes, RASopathies, and heterotaxy/ciliopathies are provided. Insights into new research with congenital heart disease models, including genetically manipulated animals such as mice, chicks, and zebrafish, as well as human induced pluripotent stem cell-based approaches are provided to allow an understanding of how future research breakthroughs for congenital heart disease are likely to happen. It is anticipated that this review will provide a large range of health care-related personnel, including pediatric cardiologists, pediatricians, adult cardiologists, thoracic surgeons, obstetricians, geneticists, genetic counselors, and other related clinicians, timely information on the genetic aspects of congenital heart disease. The objective is to provide a comprehensive basis for interdisciplinary care for those with congenital heart disease.
MeSH term(s)	American Heart Association ; Aneuploidy ; DNA Copy Number Variations ; Down Syndrome/diagnosis ; Down Syndrome/genetics ; Genetic Variation ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/epidemiology ; Heart Defects, Congenital/genetics ; Humans ; Polymorphism, Single Nucleotide ; United States/epidemiology
Language	English
Publishing date	2018-12-21
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80099-5
ISSN	1524-4539 ; 0009-7322 ; 0069-4193 ; 0065-8499
ISSN (online)	1524-4539
ISSN	0009-7322 ; 0069-4193 ; 0065-8499
DOI	10.1161/CIR.0000000000000606
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Article ; Online: Cardiac transplantation in children with Noonan syndrome.

McCallen, Leslie M / Ameduri, Rebecca K / Denfield, Susan W / Dodd, Debra A / Everitt, Melanie D / Johnson, Jonathan N / Lee, Teresa M / Lin, Angela E / Lohr, Jamie L / May, Lindsay J / Pierpont, Mary Ella / Stevenson, David A / Chatfield, Kathryn C

Pediatric transplantation

2019 Volume 23, Issue 6, Page(s) e13535

Abstract: NS and related RAS/MAPK pathway (RASopathy) disorders are the leading genetic cause of HCM presenting in infancy. HCM is a major cause of morbidity and mortality in children with Noonan spectrum disorders, especially in the first year of life. Previously, ...

Abstract	NS and related RAS/MAPK pathway (RASopathy) disorders are the leading genetic cause of HCM presenting in infancy. HCM is a major cause of morbidity and mortality in children with Noonan spectrum disorders, especially in the first year of life. Previously, there have been only isolated reports of heart transplantation as a treatment for heart failure in NS. We report on 18 patients with NS disorders who underwent heart transplantation at seven US pediatric heart transplant centers. All patients carried a NS diagnosis: 15 were diagnosed with NS and three with NSML. Sixteen of eighteen patients had comprehensive molecular genetic testing for RAS pathway mutations, with 15 having confirmed pathogenic mutations in PTPN11, RAF1, and RIT1 genes. Medical aspects of transplantation are reported as well as NS-specific medical issues. Twelve of eighteen patients described in this series were surviving at the time of data collection. Three patients died following transplantation prior to discharge from the hospital, and another three died post-discharge. Heart transplantation in NS may be a more frequent occurrence than is evident from the literature or registry data. A mortality rate of 33% is consistent with previous reports of patients with HCM transplanted in infancy and early childhood. Specific considerations may be important in evaluation of this population for heart transplant, including a potentially increased risk for malignancies as well as lymphatic, bleeding, and coagulopathy complications.
MeSH term(s)	Cardiomyopathy, Hypertrophic/genetics ; Cardiomyopathy, Hypertrophic/surgery ; Child, Preschool ; Comorbidity ; Female ; Genes, ras ; Genetic Predisposition to Disease ; Heart Failure/genetics ; Heart Failure/surgery ; Heart Transplantation ; Humans ; Infant ; Male ; Mutation ; Noonan Syndrome/genetics ; Noonan Syndrome/surgery ; Postoperative Period ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Proto-Oncogene Proteins c-raf/genetics ; Registries ; Retrospective Studies ; Treatment Outcome ; United States ; ras Proteins/genetics
Chemical Substances	Proto-Oncogene Proteins c-raf (EC 2.7.11.1) ; Raf1 protein, human (EC 2.7.11.1) ; PTPN11 protein, human (EC 3.1.3.48) ; Protein Tyrosine Phosphatase, Non-Receptor Type 11 (EC 3.1.3.48) ; RIT1 protein, human (EC 3.6.1.-) ; ras Proteins (EC 3.6.5.2)
Language	English
Publishing date	2019-07-01
Publishing country	Denmark
Document type	Journal Article ; Multicenter Study
ZDB-ID	1390284-2
ISSN	1399-3046 ; 1397-3142
ISSN (online)	1399-3046
ISSN	1397-3142
DOI	10.1111/petr.13535
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Article ; Online: Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.

Pierpont, Mary Ella / Richards, Mary / Engel, W Keith / Mendelsohn, Nancy J / Summers, C Gail

American journal of medical genetics. Part A

2017 Volume 173, Issue 5, Page(s) 1342–1347

Abstract: Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, ...

Abstract	Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities. Fundus examination findings of retinal dystrophy were present at age 3 years. Both boys have abnormal electroretinograms with reduced or undetectable rod responses along with reduced cone responses consistent with rod-cone dystrophy. Our observations suggest that early ophthalmic examination and re-evaluations are indicated in children with Costello syndrome.
MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Adult ; Child ; Costello Syndrome/complications ; Costello Syndrome/genetics ; Costello Syndrome/physiopathology ; Genotype ; Germ-Line Mutation ; Humans ; Male ; Phenotype ; Proto-Oncogene Proteins p21(ras)/genetics ; Retinal Dystrophies/complications ; Retinal Dystrophies/genetics ; Retinal Dystrophies/physiopathology
Chemical Substances	HRAS protein, human (EC 3.6.5.2) ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
Language	English
Publishing date	2017-03-23
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.38110
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