The novel p.Cys65Tyr mutation in NR5A1gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency
Abstract Background Disorders of sex development (DSD) is the term used for congenital conditions in which development of chromosomal, gonadal, or phenotypic sex is atypical. Nuclear receptor subfamily 5, group A, member 1 gene ( NR5A1 ) encodes steroidogenic factor 1 (SF1), a transcription factor t...
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Autors principals: | , , , , , , , |
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Format: | Artigo |
Idioma: | anglès |
Publicat: |
2014
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Accés en línia: | https://doi.org/10.1186/1471-2350-15-7 https://bmcmedgenet.biomedcentral.com/counter/pdf/10.1186/1471-2350-15-7 |
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