Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next ‐generation sequencing

ConclusionsHigher frequency mutations were identified inSRD5A2 (52%) andAR (24%) in our patient cohort. Middle or posterior hypospadias with micropenis may be significant indicators of genetic variations. Polygenic inheritance may be a rare genetic cause of hypospadias.

Source: Molecular Genetics & Genomic Medicine - June 19, 2019 Category: Genetics & Stem Cells Authors: Wanyu Zhang, Jinxiu Shi, Chenhui Zhang, Xincheng Jiang, Junqi Wang, Wei Wang, Defen Wang, Jihong Ni, Lifen Chen, Wenli Lu, Yuan Xiao, Weijing Ye, Zhiya Dong Tags: ORIGINAL ARTICLE Source Type: research