A 46,XX ovotesticular disorder of sex development likely caused by a SF-1 (NR5A1) variant

BACKGROUND: A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular DSD. This amino-acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. METHODS: Who...

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Gepubliceerd in:Horm Res Paediatr
Hoofdauteurs: Swartz, Jonathan M, Ciarlo, Ryan, Guo, Michael H, Abrha, Aser, Weaver, Benjamin, Diamond, David A, Chan, Yee-Ming, Hirschhorn, Joel N
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2016
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388569/
https://ncbi.nlm.nih.gov/pubmed/27855412
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000452888
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