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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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| Publicat a: | Horm Res Paediatr |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2016
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| Matèries: | |
| Accés en línia: | 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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