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Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.

Human genetics - 1 May 2021

Guo Ting, Tu Chao-Feng, Yang Dan-Hui, Ding Shui-Zi, Lei Cheng, Wang Rong-Chun, Liu Lv, Kang Xi, Shen Xiao-Qing, Yang Yi-Feng, Tan Zhi-Ping, Tan Yue-Qiu, Luo Hong

Abstract excerpt

Genetics-associated asthenoteratozoospermia is often seen in patients with multiple morphological abnormalities of the sperm flagella (MMAF). Although 24 causative genes have been identified, these explain only approximately half of patients with MMAF. Since sperm flagella and motile cilia (especially respiratory cilia) have similar axonemal structures, many patients with MMAF also exhibit respiratory symptoms,...

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PMID: 33389130
DOI: 10.1007/s00439-020-02241-4

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