Two novel heterozygous variants in RecA2 domain of the DHX37 cause 46,XY gonadal dysgenesis and testicular regression syndrome

CONCLUSION: Our findings broaden the variant spectrum of DHX37 in 46,XY DSD individuals.PMID:37717579 | DOI:10.1159/000534086

Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - September 17, 2023 Category: Genetics & Stem Cells Authors: Hao Yang Xiuqi Ma Hongjuan Tian Jinna Yuan Dehua Wu Guanping Dong Qian Liu Junfen Fu Source Type: research