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Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA.

Journal of medical genetics - 1 Aug 2023

Tian Shixiong, Tu Chaofeng, He Xiaojin, Meng Lanlan, Wang Jiaxiong, Tang Shuyan, Gao Yang, Liu Chunyu, Wu Huan, Zhou Yiling, Lv Mingrong, Lin Ge, Jin Li, Cao Yunxia, Tang Dongdong, Zhang Feng, Tan Yue-Qiu

Abstract excerpt

BACKGROUND: Spermatogenic impairments can lead to male infertility by different pathological conditions, such as multiple morphological abnormalities of the sperm flagella (MMAF) and non-obstructive azoospermia (NOA). Genetic factors are involved in impaired spermatogenesis. METHODS AND RESULTS: Here, we performed genetic analyses through whole-exome sequencing in a cohort of 334 Han Chinese probands with severe...

Topics

Female
Humans
Male
Pregnancy
Azoospermia
Infertility, Male
Mutation
Sperm Tail
Spermatozoa
Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36593121
DOI: 10.1136/jmg-2022-108887

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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