Article
Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility.
Fertility and sterility - 1 Oct 2009
Vinci Giovanna, Brauner Raja, Tar Attila, Rouba Hassan, Sheth Jayesh, Sheth Frenny, Ravel Celia, McElreavey Ken, Bashamboo Anu
Abstract excerpt
We screened 100 individuals with anomalies of testicular development or function for mutations in the TSPYL1 gene. A 46,XY female with complete gonadal dysgenesis carried a p.K320R mutation in the highly conserved NAP domain, and a 46,XY male with idiopathic azoospermia harbored a p.R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.