Article
Patient with CATSPER3 mutations-related failure of sperm acrosome reaction with successful pregnancy outcome from intracytoplasmic sperm injection (ICSI).
Molecular genetics & genomic medicine - 1 Feb 2021
Wang Jiaxiong, Tang Hui, Zou Qinyan, Zheng Aiyan, Li Hong, Yang Shenmin, Xiang Jingjing
Abstract excerpt
PURPOSE: This study is intended to investigate the candidate pathogenic gene in a patient with primary infertility but without the defect in routine semen parameters from a consanguineous family and explore the potential impacts of mutations on assisted reproductive technology outcome. METHODS: Whole-exome sequencing (WES) was carried out. A variant in his family found by WES was verified by Sanger sequencing....
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