The novel p.Cys65Tyr mutation in NR5A1gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Helena Fabbri‐Scallet, Juliana Gabriel Ribeiro de Andrade, Fernanda Caroline Soardi, Flávia Leme de Calais, Reginaldo José Petroli, Andréa Trevas Maciel‐Guerra, Gil Guerra‐Júnior, Maricilda Palandi de Mello
Formato: Artigo
Idioma:inglés
Publicado: 2014
Acceso en liña:https://doi.org/10.1186/1471-2350-15-7
https://bmcmedgenet.biomedcentral.com/counter/pdf/10.1186/1471-2350-15-7
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Internet

https://doi.org/10.1186/1471-2350-15-7
https://bmcmedgenet.biomedcentral.com/counter/pdf/10.1186/1471-2350-15-7

Títulos similares