Inherited missense mutation occurred Arginine76 of SRY gene not account for familial 46, XY sex reversal.

CONCLUSION：: In contrast to sporadic cases, inherited single nucleotide variations (SNVs) of SRY are not the main cause of the severe phenotype of 46,XY sex reversal, and the enhancers of SOX9 should be investigated carefully in such patients.
PMID: 32140723 [PubMed - as supplied by publisher]

Source: The Journal of Clinical Endocrinology and Metabolism - March 5, 2020 Category: Endocrinology Authors: Wang N, Zhu W, Han B, Wang H, Zhu H, Chen Y, Chen Y, Liu J, Liu Y, Zhao S, Song H, Qiao J Tags: J Clin Endocrinol Metab Source Type: research