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Article ; Online: Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

Aubert-Mucca, Marion / Huber, Céline / Baujat, Genevieve / Michot, Caroline / Zarhrate, Mohammed / Bras, Marc / Boutaud, Lucile / Malan, Valérie / Attie-Bitach, Tania / Cormier-Daire, Valerie

Journal of medical genetics

2022 Volume 60, Issue 4, Page(s) 337–345

Abstract: Background: Ellis-Van Creveld (EVC) syndrome is one of the entities belonging to the skeletal ciliopathies short rib-polydactyly subgroup. Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high degree ...

Abstract	Background: Ellis-Van Creveld (EVC) syndrome is one of the entities belonging to the skeletal ciliopathies short rib-polydactyly subgroup. Major signs are ectodermal dysplasia, chondrodysplasia, polydactyly and congenital cardiopathy, with a high degree of variability in phenotypes ranging from lethal to mild clinical presentations. The Methods: The aim of this study was the analysis of 50 clinically identified EVC cases from 45 families to further define the phenotype and molecular bases of EVC. Results: Our detection rate in the cohort of 45 families was of 91.11%, with variants identified in Conclusion: We confirmed that
MeSH term(s)	Humans ; Hedgehog Proteins/genetics ; Ellis-Van Creveld Syndrome/genetics ; Ellis-Van Creveld Syndrome/diagnosis ; DNA Copy Number Variations/genetics ; Phenotype ; Polydactyly
Chemical Substances	Hedgehog Proteins
Language	English
Publishing date	2022-08-04
Publishing country	England
Document type	Journal Article
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2022-108435
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Article ; Online: Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

Ranza, Emmanuelle / Le Gouez, Morgane / Guimier, Anne / Dunlop, Naziha Khen / Beaudoin, Sylvie / Malan, Valérie / Michot, Caroline / Baujat, Geneviève / Rio, Marlène / Cormier-Daire, Valérie / Abadie, Véronique / Sarnacki, Sabine / Delacourt, Christophe / Lyonnet, Stanislas / Attié-Bitach, Tania / Pingault, Véronique / Rousseau, Véronique / Amiel, Jeanne

American journal of medical genetics. Part A

2022 Volume 191, Issue 1, Page(s) 77–83

Abstract: Developmental abnormalities provide a unique opportunity to seek for the molecular mechanisms underlying human organogenesis. Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would ... ...

Abstract	Developmental abnormalities provide a unique opportunity to seek for the molecular mechanisms underlying human organogenesis. Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achieve a better comprehension. Prenatal detection, syndromic classification, molecular diagnosis, and prognostic factors in EA are challenging. Some syndromes have been described to frequently include EA, such as CHARGE, EFTUD2-mandibulofacial dysostosis, Feingold syndrome, trisomy 18, and Fanconi anemia. However, no molecular diagnosis is made in most cases, including frequent associations, such as Vertebral-Anal-Cardiac-Tracheo-Esophageal-Renal-Limb defects (VACTERL). This study evaluates the clinical and genetic test results of 139 neonates and 9 fetuses followed-up at the Necker-Enfants Malades Hospital over a 10-years period. Overall, 52 cases were isolated EA (35%), and 96 were associated with other anomalies (65%). The latter group is divided into three subgroups: EA with a known genomic cause (9/148, 6%); EA with Vertebral-Anal-Cardiac-Tracheo-Esophageal-Renal-Limb defects (VACTERL) or VACTERL/Oculo-Auriculo-Vertebral Dysplasia (VACTERL/OAV) (22/148, 14%); EA with associated malformations including congenital heart defects, duodenal atresia, and diaphragmatic hernia without known associations or syndromes yet described (65/148, 44%). Altogether, the molecular diagnostic rate remains very low and may underlie frequent non-Mendelian genetic models.
Language	English
Publishing date	2022-10-21
Publishing country	United States
Document type	Journal Article
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.62989
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Article: Une horloge circannuelle sonne le réveil des hibernants.

Sáenz de Miera, Cristina / Malan, André / Simonneaux, Valérie

Medecine sciences : M/S

2015 Volume 31, Issue 4, Page(s) 367–369

Title translation	A circannual clock wakes up hibernating mammals.
MeSH term(s)	Animals ; Biological Clocks/physiology ; Cricetinae ; Gene Expression Regulation ; Hibernation/physiology ; Mammals/physiology ; Seasons
Language	French
Publishing date	2015-04
Publishing country	France
Document type	News
ZDB-ID	632733-3
ISSN	1958-5381 ; 0767-0974
ISSN (online)	1958-5381
ISSN	0767-0974
DOI	10.1051/medsci/20153104007
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Article ; Online: Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.

Bensaid, Souad / Bendahmane, Malika / Loddo, Sara / Poke, Gemma / Januel, Louis / Nicolle, Romain / Malan, Valérie / Chatron, Nicolas / Ottombrino, Silvia / Dentici, Maria Lisa / Novelli, Antonio / Digilio, Maria Cristina / Sanlaville, Damien

American journal of medical genetics. Part A

2024 , Page(s) e63580

Abstract: Deletions of the long arm of chromosome 20 (20q) are rare, with only 16 reported patients displaying a proximal interstitial 20q deletion. A 1.62 Mb minimal critical region at 20q11.2, encompassing three genes GDF5, EPB41L1, and SAMHD1, is proposed to be ...

Abstract	Deletions of the long arm of chromosome 20 (20q) are rare, with only 16 reported patients displaying a proximal interstitial 20q deletion. A 1.62 Mb minimal critical region at 20q11.2, encompassing three genes GDF5, EPB41L1, and SAMHD1, is proposed to be responsible for this syndrome. The leading clinical features include growth retardation, intractable feeding difficulties with gastroesophageal reflux, hypotonia and psychomotor developmental delay. Common facial dysmorphisms including triangular face, hypertelorism, and hypoplastic alae nasi were additionally reported. Here, we present the clinical and molecular findings of five new patients with proximal interstitial 20q deletions. We analyzed the phenotype and molecular data of all previously reported patients with 20q11.2q12 microdeletions, along with our five new cases. Copy number variation analysis of patients in our cohort has enabled us to identify the second critical region in the 20q11.2q12 region and redefine the first region that is initially identified. The first critical region spans 359 kb at 20q11.2, containing six MIM genes, including two disease-causing genes, GDF5 and CEP250. The second critical region spans 706 kb at 20q12, encompassing four MIM genes, including two disease-causing genes, MAFB and TOP1. We propose GDF5 to be the primary candidate gene generating the phenotype of patients with 20q11.2 deletions. Moreover, we hypothesize TOP1 as a potential candidate gene for the second critical region at 20q12. Of note, we cannot exclude the possibility of a synergistic role of other genes involved in the deletion, including a contiguous gene deletion syndrome or position effect affecting both critical regions. Further studies focusing on patients with proximal 20q deletions are required to support our hypothesis.
Language	English
Publishing date	2024-03-21
Publishing country	United States
Document type	Journal Article
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.63580
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Article ; Online: Women's Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome.

Seror, Valerie / L'Haridon, Olivier / Bussières, Laurence / Malan, Valérie / Fries, Nicolas / Vekemans, Michel / Salomon, Laurent J / Ville, Yves

JAMA network open

2019 Volume 2, Issue 3, Page(s) e191062

Abstract: Importance: Noninvasive prenatal testing (NIPT) using cell-free DNA in maternal blood is increasingly common compared with invasive testing (IT) in routine antenatal detection of Down syndrome (DS).: Objective: To assess attitudes and decision making ...

Abstract	Importance: Noninvasive prenatal testing (NIPT) using cell-free DNA in maternal blood is increasingly common compared with invasive testing (IT) in routine antenatal detection of Down syndrome (DS). Objective: To assess attitudes and decision making in pregnant women facing a risk of fetal DS greater than 1 in 250 as established by combined first trimester screening at 11 to 14 weeks of gestation. Design, setting, and participants: Survey study in which data were collected from pregnant women at high risk of fetal DS participating in a randomized clinical trial. Data were collected from April 8, 2014, to April 7, 2016, in 57 prenatal diagnosis centers in France. Data were analyzed in 2018. Interventions: Data on attitudes were collected prior to offering randomization between NIPT and IT, whereas data on decision making and test results were collected as part of the clinical trial. Main outcome and measures: The primary outcome related to attitudes. A hierarchical cluster analysis was conducted to identify clusters with contrasting attitudes. Logistic regression analyses were used to identify factors associated with attitudes. Results: All 2436 consecutive women to whom the study was proposed (mean [SD] age, 36.3 [5.0] years) answered the questionnaire: 515 (21.1%) expressed preference toward IT with complete karyotyping, whereas 1843 (75.7%) favored NIPT with almost certain but limited information. Hierarchical cluster analysis yielded 4 different clusters that mainly differed in attitudes toward risk taking and extent of information seeking. Factors likely associated with attitudes driven by risk aversion were mostly age and religious beliefs (adjusted odds ratio [aOR], 1.03; 95% CI, 1.00-1.05; P = .03 and aOR, 1.62; 95% CI, 1.29-2.04; P < .001, respectively), whereas higher nuchal translucency measurements by ultrasonography were associated with attitudes driven by ambiguity aversion (aOR, 1.67; 95% CI, 1.27-2.20; P < .001). For attitudes involving both risk and ambiguity aversion at different extents, lower education was associated with highly valuing all possibilities of getting information on pregnancy, whereas higher education was associated with highly valuing information on fetal DS as a primary concern (aOR, 0.54; 95% CI, 0.44-0.67; P < .001 and aOR, 1.44; 95% CI, 1.20-1.74; P < .001, respectively). In all, decision making was in line with attitudes. Conclusions and relevance: Aversion to risk of fetal loss related to IT and aversion to ambiguity generated by incomplete information from NIPT played a major role in shaping attitudes and decision making. Informed decision making should require pregnant women at high risk of DS to receive extensive information on targeted abnormalities by both tests.
MeSH term(s)	Adult ; Down Syndrome/diagnosis ; Down Syndrome/psychology ; Female ; Health Knowledge, Attitudes, Practice ; Humans ; Pregnancy ; Pregnancy Complications/epidemiology ; Pregnancy Complications/psychology ; Prenatal Diagnosis/psychology ; Risk ; Surveys and Questionnaires
Language	English
Publishing date	2019-03-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2574-3805
ISSN (online)	2574-3805
DOI	10.1001/jamanetworkopen.2019.1062
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Article ; Online: Cervical cancer and precancerous cervical lesions detected using visual inspection with acetic acid at Livingstone Teaching Hospital.

Hayumbu, Valerie / Hangoma, Joy / Hamooya, Benson Malambo / Malumani, Malan / Masenga, Sepiso Kenias

The Pan African medical journal

2021 Volume 40, Page(s) 235

Abstract: Introduction: cervical cancer (CaCx) is the second most common malignancy in women world-wide. Precancer screening aided by visual inspection with acetic acid (VIA) is an early diagnosis method used to detect the lesions that are high indicators of ... ...

Abstract	Introduction: cervical cancer (CaCx) is the second most common malignancy in women world-wide. Precancer screening aided by visual inspection with acetic acid (VIA) is an early diagnosis method used to detect the lesions that are high indicators of cancer in women. cervical cancer is more prevalent in the developing world affecting mainly women in the reproductive age group and is the commonest cancer among Zambian women. Therefore, the study aimed to determine the prevalence and factors associated with a positive VIA at Livingstone Teaching Hospital (LTH). Methods: this was a cross-sectional study conducted at LTH among 329 women from Livingstone district aged 18 and above, who were coming for routine cervical cancer screening using VIA between 2019 and 2020. Demographic and clinical data were collected from the CaCx clinic. A positive VIA (precancerous cervical lesions) and cervical cancer were the primary and secondary outcome variables. A positive VIA was defined by presence of a dense ulcerative acetowhite area in the transformation zone of the cervix. Cervical cancer diagnosis was defined by presence of cancerous cells on histological examination by a qualified pathologist. Data were analyzed using Statistical package for social sciences (SPSS) version 22.0. Chi-square test, Mann-Whitney and logistic regression were the statistical methods used. Results: the participants had a median (interquartile range) age of 37 (29, 44) years. Prevalence of CaCx and positive VIA were 6% (95% confidence interval (CI) 4, 9) and 19% (95% CI: 15, 24) respectively. At multivariable analysis, the factors associated with a positive VIA were alcohol consumption [odds ratio (OR) 0.30 (95% CI: 0.12, 0.74)] and HIV infection [OR 0.37 (95% CI: 0.19, 0.70)]. Conclusion: the study showed that precancerous cervical lesions are common among our study participants and it was influenced by alcohol consumption and HIV status. There is therefore need to enhance the screening programs using VIA in order to identify cancerous lesions at an early stage for early intervention in resource limited settings.
MeSH term(s)	Acetic Acid ; Adolescent ; Cervix Uteri/pathology ; Cross-Sectional Studies ; Early Detection of Cancer/methods ; Female ; HIV Infections/epidemiology ; Hospitals, Teaching ; Humans ; Precancerous Conditions/diagnosis ; Precancerous Conditions/epidemiology ; Precancerous Conditions/pathology ; Uterine Cervical Neoplasms/diagnosis ; Uterine Cervical Neoplasms/epidemiology ; Uterine Cervical Neoplasms/pathology
Chemical Substances	Acetic Acid (Q40Q9N063P)
Language	English
Publishing date	2021-12-17
Publishing country	Uganda
Document type	Journal Article
ZDB-ID	2514347-5
ISSN	1937-8688 ; 1937-8688
ISSN (online)	1937-8688
ISSN	1937-8688
DOI	10.11604/pamj.2021.40.235.32300
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Article ; Online: Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.

Daruich, Alejandra / Robert, Matthieu P / Leroy, Camille / DE Vergnes, Nathalie / Beugnet, Caroline / Malan, Valerie / Valleix, Sophie / Bremond-Gignac, Dominique

American journal of ophthalmology

2021 Volume 237, Page(s) 122–129

Abstract: Purpose: To correlate the degree of foveal hypoplasia in congenital aniridia with visual acuity, iris phenotype, and PAX6 mutations.: Design: Retrospective case series.: Methods: Ninety-five consecutive patients with high-quality spectral-domain ... ...

Abstract	Purpose: To correlate the degree of foveal hypoplasia in congenital aniridia with visual acuity, iris phenotype, and PAX6 mutations. Design: Retrospective case series. Methods: Ninety-five consecutive patients with high-quality spectral-domain optical coherence tomography records and available genotype were included in a single referral center. Iris hypoplasia was classified as complete, presence of iris root or remnants, and mild atypical aniridia. Spectral-domain optical coherence tomography images were assessed to classify foveal hypoplasia as grade 1 to 4 and to determine mean thicknesses for retinal layers. For statistical analysis 1 eye for each patient was used and 1 member of the same family has been included (n = 76 eyes). Results: Most eyes (n= 158/169, 93.5%) showed variable degree of foveal hypoplasia. PAX6-positive patients presented higher degree of foveal hypoplasia than patients negative for PAX6 (P < .0001). PAX6 deletions, PAX6 variants subjected to nonsense-mediated decay and C-terminal extension variants were mostly associated with grade 3 or 4 foveal hypoplasia. Deletions restricted to the 3' flanking regulatory regions of PAX6 were associated with grade 1 or 2 foveal hypoplasia (P < .0001). Best-corrected visual acuity was higher and foveal outer retinal layers were thicker in patients with deletions in the 3' regulatory region of PAX6 (P = .001 and P < .0001). Patients with missense mutations presented with variable degree of foveal hypoplasia. The degree of foveal hypoplasia was most frequently correlated with the severity of iris defects, with 95% of eyes with complete aniridia presenting grade 3 or 4 foveal hypoplasia (P = .005). However, among eyes with mild iris phenotype, 70% (n=9/13) showed severe foveal hypoplasia. Conclusions: All types of PAX6 variants, even those associated with mild iris defects, may be at risk for severe foveal hypoplasia with poor visual prognosis, except for deletions restricted to the 3' regulatory PAX6 regions.
MeSH term(s)	Aniridia/diagnosis ; Aniridia/genetics ; Eye Proteins/genetics ; Genotype ; Humans ; Mutation ; PAX6 Transcription Factor/genetics ; Pedigree ; Phenotype ; Retrospective Studies ; Vision Disorders/genetics
Chemical Substances	Eye Proteins ; PAX6 Transcription Factor ; PAX6 protein, human
Language	English
Publishing date	2021-12-20
Publishing country	United States
Document type	Journal Article
ZDB-ID	80030-2
ISSN	1879-1891 ; 0002-9394
ISSN (online)	1879-1891
ISSN	0002-9394
DOI	10.1016/j.ajo.2021.12.007
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Article ; Online: A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.

Nicolle, Romain / Altin, Nami / Siquier-Pernet, Karine / Salignac, Sherlina / Blanc, Pierre / Munnich, Arnold / Bole-Feysot, Christine / Malan, Valérie / Caron, Barthélémy / Nitschké, Patrick / Desguerre, Isabelle / Boddaert, Nathalie / Rio, Marlène / Rausell, Antonio / Cantagrel, Vincent

BMC medical genomics

2023 Volume 16, Issue 1, Page(s) 143

Abstract: Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic encephalopathy. A variant (NM_020320.3:c.-2A > ...

Abstract	Bi-allelic variants in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been involved in early-onset encephalopathies classified as pontocerebellar hypoplasia (PCH) type 6 and in epileptic encephalopathy. A variant (NM_020320.3:c.-2A > G) in the promoter and 5'UTR of the RARS2 gene has been previously identified in a family with PCH. Only a mild impact of this variant on the mRNA level has been detected. As RARS2 is non-dosage-sensitive, this observation is not conclusive in regard of the pathogenicity of the variant.We report and describe here a new patient with the same variant in the RARS2 gene, at the homozygous state. This patient presents with a clinical phenotype consistent with PCH6 although in the absence of lactic acidosis. In agreement with the previous study, we measured RARS2 mRNA levels in patient's fibroblasts and detected a partially preserved gene expression compared to control. Importantly, this variant is located in the Kozak sequence that controls translation initiation. Therefore, we investigated the impact on protein translation using a bioinformatic approach and western blotting. We show here that this variant, additionally to its effect on the transcription, also disrupts the consensus Kozak sequence, and has a major impact on RARS2 protein translation. Through the identification of this additional case and the characterization of the molecular consequences, we clarified the involvement of this Kozak variant in PCH and on protein synthesis. This work also points to the current limitation in the pathogenicity prediction of variants located in the translation initiation region.
MeSH term(s)	Humans ; Cerebellar Diseases ; Olivopontocerebellar Atrophies/genetics ; RNA, Messenger/genetics ; Arginine-tRNA Ligase
Chemical Substances	RNA, Messenger ; RARS2 protein, human (EC 6.1.1.19) ; Arginine-tRNA Ligase (EC 6.1.1.19)
Language	English
Publishing date	2023-06-21
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2411865-5
ISSN	1755-8794 ; 1755-8794
ISSN (online)	1755-8794
ISSN	1755-8794
DOI	10.1186/s12920-023-01582-z
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Article ; Online: Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.

Lesieur-Sebellin, Marion / Marzin, Pauline / Arnoux, Jean-Baptiste / Maurin, Marie-Laure / Receveur, Aline / Cantagrel, Vincent / Rose, Sylvia / Dorval, Guillaume / Levy, Jonathan / Malan, Valérie

European journal of medical genetics

2023 Volume 66, Issue 10, Page(s) 104848

Abstract: The association of both uniparental disomy and small supernumerary marker chromosomes is rare. Clinical impact depends on the presence of imprinted genes and/or the unmasking of a recessive mutation of the chromosome involved in the uniparental disomy ... ...

Abstract	The association of both uniparental disomy and small supernumerary marker chromosomes is rare. Clinical impact depends on the presence of imprinted genes and/or the unmasking of a recessive mutation of the chromosome involved in the uniparental disomy and the euchromatic content of the sSMC. Here, we report on the second case of a patient harbouring a de novo supernumerary marker chromosome 6 causing partial trisomy 6p12.3p11.1 associated with a paternal uniparental isodisomy of chromosome 6. Our patient presented with intrauterine growth retardation, macroglossia, initial developmental delay and transient neonatal diabetes mellitus followed by a congenital hyperinsulinism. Diabetes and intrauterine growth retardation can be linked to the paternal isodisomy of the imprinted locus on chromosome 6q24 whereas developmental delay is probably due to the small supernumerary marker chromosome. However, the clinical impact of partial trisomy 6p is difficult to address due to a limited number of patients. The careful clinical examination and the molecular characterization of additional patients with trisomy 6p are needed to further predict the phenotype for genetic counselling. Finally, uniparental disomy should be considered when a sSMC involving a chromosome containing imprinted regions is detected, especially in the prenatal setting.
Language	English
Publishing date	2023-09-20
Publishing country	Netherlands
Document type	Letter
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2023.104848
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Article ; Online: High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

Roulot, Dominique / Malan, Valérie / Ziol, Marianne / Linglart, Agnès / Bourcier, Valérie / Beaugrand, Michel / Benzacken, Brigitte

The Journal of clinical endocrinology and metabolism

2014 Volume 99, Issue 8, Page(s) E1592–6

Abstract: Context: Paucisymptomatic forms of Turner's syndrome (TS), in which short stature is the predominant clinical abnormality, remain underdiagnosed. Abnormal liver tests are extremely frequent in adult TS patients reflecting various types of hepatic ... ...

Abstract	Context: Paucisymptomatic forms of Turner's syndrome (TS), in which short stature is the predominant clinical abnormality, remain underdiagnosed. Abnormal liver tests are extremely frequent in adult TS patients reflecting various types of hepatic lesions. Objective: The objective of the study was to investigate whether unexplained elevated liver enzymes in women with short stature could reveal X chromosome abnormalities of undiagnosed TS. Design and participants: Thirty-one consecutive short stature women displaying elevated liver enzymes and no previous diagnosis of TS were compared with 31 age-matched controls in a prospective study. Liver biopsy was performed in 26 patients. Main outcome measures: Systematic karyotype analysis and fluorescence in situ hybridization. Results: X chromosome abnormalities were found in 27 patients and one control (87.0% vs 3.2%, P < .0001), including a 45,X/46,XX mosaicism in 24 patients and isochromosome of the long arm in three. Liver histological analysis showed architectural changes in 17 patients with nodular regenerative hyperplasia in 12. Biliary lesions were present in 13 patients and liver steatosis in 20. Conclusions: X chromosome abnormalities indicative of cryptic TS are extremely frequent in short-stature women with unexplained elevated liver enzymes. In short-stature women, abnormal liver tests should lead to systematic karyotype analysis.
MeSH term(s)	Adult ; Aged ; Case-Control Studies ; Chromosomes, Human, X ; Dwarfism/complications ; Dwarfism/epidemiology ; Dwarfism/genetics ; Female ; Gene Frequency ; Humans ; Liver/enzymology ; Liver Diseases/complications ; Liver Diseases/epidemiology ; Liver Diseases/genetics ; Liver Function Tests ; Middle Aged ; Prevalence ; Sex Chromosome Aberrations/statistics & numerical data ; Turner Syndrome/complications ; Turner Syndrome/epidemiology ; Turner Syndrome/genetics
Language	English
Publishing date	2014-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2014-1037
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