Article
Biallelic mutations in WDR12 are associated with male infertility with tapered-head sperm.
Asian journal of andrology - 1 Jan 2000
Hua Juan, Guo Lan, Yao Yao, Hu Wen, Wan Yang-Yang, Xu Bo
Abstract excerpt
Teratozoospermia is a rare disease associated with male infertility. Several recurrent genetic mutations have been reported to be associated with abnormal sperm morphology, but the genetic basis of tapered-head sperm is not well understood. In this study, whole-exome sequencing (WES) identified a homozygous WD repeat domain 12 (WDR12; p.Ser162Ala/c.484T>G) variant in an infertile patient with tapered-head...
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