NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
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A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) VariantNew NR5A1 mutations and phenotypic variations of gonadal dysgenesis.The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice.Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.Emerging issues in disorders/differences of sex development (DSD).Recent findings on the genetics of disorders of sex development.Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model.Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children.Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations
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P2860
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
description
2016 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
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scientific journal article
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wetenschappelijk artikel (gepubliceerd op 2016/08/04)
@nl
наукова стаття, опублікована в серпні 2016
@uk
مقالة علمية (نشرت في 4-8-2016)
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name
NR5A1 is a novel disease gene ...... r disorders of sex development
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NR5A1 is a novel disease gene ...... r disorders of sex development
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type
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NR5A1 is a novel disease gene ...... r disorders of sex development
@ast
NR5A1 is a novel disease gene ...... r disorders of sex development
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prefLabel
NR5A1 is a novel disease gene ...... r disorders of sex development
@ast
NR5A1 is a novel disease gene ...... r disorders of sex development
@en
P2093
P2860
P50
P3181
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P1476
NR5A1 is a novel disease gene ...... r disorders of sex development
@en
P2093
Anne-Laure Todeschini
Dorien Baetens
Frank Peelman
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P2888
P304
P3181
P356
10.1038/GIM.2016.118
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P577
2016-08-04T00:00:00Z
P6179
1023905038