Article
The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
BMC medical genetics - 10 Jan 2014
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
Abstract excerpt
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 involved in gonadal development and regulates adrenal steroidogenesis. Mutations in the NR5A1 gene may lead to...
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