Title : STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.

Pub. Date : 2014 Feb

PMID : 23859637






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH) which is characterized by impaired synthesis of adrenal and gonadal steroids causing adrenal insufficiency, 46,XY disorder of sex development (DSD) and failure of pubertal development. Steroids steroidogenic acute regulatory protein Homo sapiens