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Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations.
Lv M, Liu C, Ma C, Yu H, Shao Z, Gao Y, Liu Y, Wu H, Tang D, Tan Q, Zhang J, Li K, Xu C, Geng H, Zhang J, Li H, Mao X, Ge L, Fu F, Zhong K, Xu Y, Tao F, Zhou P, Wei Z, He X, Zhang F, Cao Y. Lv M, et al. Among authors: liu y, liu c. Reprod Biol Endocrinol. 2022 Jan 3;20(1):5. doi: 10.1186/s12958-021-00880-4. Reprod Biol Endocrinol. 2022. PMID: 34980136 Free PMC article.
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans.
Wu H, Zhang X, Hua R, Li Y, Cheng L, Li K, Liu Y, Gao Y, Shen Q, Wang G, Lv M, Xu Y, He X, Cao Y, Liu M. Wu H, et al. Among authors: liu y, liu m. Hum Genet. 2022 Nov;141(11):1795-1809. doi: 10.1007/s00439-022-02459-4. Epub 2022 May 19. Hum Genet. 2022. PMID: 35587281
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