The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

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 that is inv...

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Detalhes bibliográficos
Main Authors: Fabbri, Helena Campos, de Andrade, Juliana Gabriel Ribeiro, Soardi, Fernanda Caroline, de Calais, Flávia Leme, Petroli, Reginaldo José, Maciel-Guerra, Andréa Trevas, Guerra-Júnior, Gil, de Mello, Maricilda Palandi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3900668/
https://ncbi.nlm.nih.gov/pubmed/24405868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-7
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