| Literature DB >> 19463995 |
Giovanna Vinci1, Raja Brauner, Attila Tar, Hassan Rouba, Jayesh Sheth, Frenny Sheth, Celia Ravel, Ken McElreavey, Anu Bashamboo.
Abstract
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 development/function.Entities:
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Year: 2009 PMID： 19463995 DOI： 10.1016/j.fertnstert.2009.04.009
Source DB: PubMed Journal: Fertil Steril ISSN： 0015-0282 Impact factor: 7.329