Associated Papers
Inherited Missense Mutation Occurring in Arginine76 of the SRY Gene Does Not Account for Familial 46, XY Sex Reversal.
Wang N et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations.
Roberts J et al.
American Journal of Medical Genetics. Part A, 2018
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
Hersmus R et al.
Plos One, 2012
22815844 (PubMed )
Supplement: pone.0040858.s001.xls › Sheet1
Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.
Isidor B et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis.
Wang XB et al.
Asian Journal of Andrology, 0
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