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Article

Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.

Clinical genetics - 1 Mar 2021

Sha Yankun, Sha Yanwei, Liu Wensheng, Zhu Xingshen, Weng Mingxiang, Zhang Xinzong, Wang Yifeng, Zhou Huiliang

Abstract excerpt

Multiple morphological abnormalities of the sperm flagella (MMAF) is a severe type of teratozoospermia. In this study, whole-exome sequencing was conducted on 55 patients with MMAF, and biallelic mutations of CFAP58 were identified in two patients. The variants are rare and pathogenic, and CFAP58 was absent in the CFAP58-mutated sperm. The F037/II:1 couple benefited from intracytoplasmic sperm injection (ICSI)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33314088
DOI: 10.1111/cge.13898

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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