Soardi FC

ORCID: 0000-0001-7801-2974 · 1 paper in corpus · active 2014
2014
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 ·doi:10.1186/1471-2350-15-7

BackgroundDisorders 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 steroi…