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Article

A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella.

Journal of assisted reproduction and genetics - 1 Jan 2024

Ali Asim, Unar Ahsanullah, Muhammad Zubair, Dil Sobia, Zhang Beibei, Sadaf Humaira, Khan Manan, Ali Muhammad, Khan Ranjha, Shah Kakakhel Mian Basit, Ma Ao, Jiang Xiaohua, Zhang Yuanwei, Zhang Huan, Shi Qinghua

Abstract excerpt

PURPOSE: Asthenozoospermia is an important cause of male infertility, and the most serious type is characterized by multiple morphological abnormalities of the sperm flagella (MMAF). However, the precise etiology of MMAF remains unknown. In the current study, we recruited a consanguineous Pakistani family with two infertile brothers suffering from primary infertility due to MMAF without obvious signs of PCD....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37831349
DOI: 10.1007/s10815-023-02966-x
PMCID: PMC10789708

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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