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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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
Médium: Artigo
Jazyk:angličtina
Vydáno: 2014
On-line přístup:https://doi.org/10.1186/1471-2350-15-7
https://bmcmedgenet.biomedcentral.com/counter/pdf/10.1186/1471-2350-15-7
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Internet

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

Podobné jednotky