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Article

A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.

Frontiers in endocrinology - 1 Jan 2023

Liu Mohan, Dai Siyu, Zhang Jiying, Yang Yihong, Shen Ying, Liu Hongqian, Yang Yanting, Jiang Chuan, Tian Erpo

Abstract excerpt

Introduction: A previous study suggested that loss of CFAP47 function is involved in multiple morphological abnormalities of the sperm flagella (MMAF) in humans and mice. However, the comprehensive role of CFAP47 in spermatogenesis is largely unknown. Methods: Whole-exome sequencing (WES) was conducted to identify pathogenic variant in two patients with MMAF. The functional effect of the identified mutations was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37424856
DOI: 10.3389/fendo.2023.1155639
PMCID: PMC10326514

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A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.PMID 37424856Read ↗

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