Article
Loss-of-function mutation in TSGA10 causes acephalic spermatozoa phenotype in human.
Molecular genetics & genomic medicine - 1 Jul 2020
Ye Yuanyuan, Wei Xiaoli, Sha Yanwei, Li Na, Yan Xiaohong, Cheng Ling, Qiao Duanrui, Zhou Weidong, Wu Rongfeng, Liu Qiaobin, Li Youzhu
Abstract excerpt
BACKGROUND: Acephalic spermatozoa is an extremely rare type of teratozoospermia that is associated with male infertility. Several genes have been reported to be relevant to acephalic spermatozoa. Thus, more genetic pathogenesis needs to be explored. METHODS: Whole-exome sequencing was performed in a patient with acephalic spermatozoa. Then Sanger sequencing was used for validation in the patient and his family....
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