Article
Pathogenic variants of ATG4D in infertile men with non-obstructive azoospermia identified using whole-exome sequencing.
Clinical genetics - 1 Sept 2021
Sha Yanwei, Liu Wensheng, Wei Xiaoli, Zhu Xingshen, Tang Bowen, Zhang Xiaoya, Yang Xiaoyu, Wang Yifeng, Wang Xiong
Abstract excerpt
Non-obstructive azoospermia (NOA) is the most severe form of male infertility, and it is primarily associated with genetic defects. We performed whole-exome sequencing of 236 patients with NOA and identified a homozygous pathogenic variant of autophagy-related 4D cysteine peptidase (ATG4D) in two siblings from a consanguineous family and compound heterozygous pathogenic variants of ATG4D in two sporadic cases....
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