Article
Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India.
The National medical journal of India - 1 Jan 2000
Mohan Sony, Danda Sumita, Mathai Sarah, Simon Anna
Abstract excerpt
Background: Nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene previously known as DAX1 is a transcription factor that plays a key role in the development of hypothalamo-pituitary-gonadal and adrenal axis. Primary adrenal failure may result from metabolic, infection, autoimmune or developmental causes resulting in a life-threatening condition needing immediate intervention. This study aimed to analyse...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.