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Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.
He X, Li W, Wu H, Lv M, Liu W, Liu C, Zhu F, Li C, Fang Y, Yang C, Cheng H, Zhang J, Tan J, Chen T, Tang D, Song B, Wang X, Zha X, Wang H, Wei Z, Yang S, Saiyin H, Zhou P, Jin L, Wang J, Zhang Z, Zhang F, Cao Y. He X, et al. Among authors: li c, li w. J Med Genet. 2019 Feb;56(2):96-103. doi: 10.1136/jmedgenet-2018-105486. Epub 2018 Nov 10. J Med Genet. 2019. PMID: 30415212
Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
Lv M, Liu W, Chi W, Ni X, Wang J, Cheng H, Li WY, Yang S, Wu H, Zhang J, Gao Y, Liu C, Li C, Yang C, Tan Q, Tang D, Zhang J, Song B, Chen YJ, Li Q, Zhong Y, Zhang Z, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang C, He X, Zhang F, Cao Y. Lv M, et al. Among authors: li c, li wy, li q. J Med Genet. 2020 Jul;57(7):445-453. doi: 10.1136/jmedgenet-2019-106479. Epub 2020 Feb 12. J Med Genet. 2020. PMID: 32051257 Free PMC article.
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