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...
Saved in:
Main Authors: | , , , , , , , |
---|---|
格式: | Artigo |
語言: | 英语 |
出版: |
2014
|
在線閱讀: | https://doi.org/10.1186/1471-2350-15-7 https://bmcmedgenet.biomedcentral.com/counter/pdf/10.1186/1471-2350-15-7 |
標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|