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Article

Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects.

Molecular genetics & genomic medicine - 1 Sept 2022

Nie Hua, Tang Yunge, Zhang Xiaoyu, Tan Yuqiu, Qin Weibing

Abstract excerpt

BACKGROUND: Acephalic spermatozoa (AS) is a serious but rare reproductive genetic disorder that causes infertility in men. To date, only a few genes associated with AS defects have been identified, including the polyamine modulated factor 1 binding protein 1 (PMFBP1) gene. Consistent with this, PMFBP1 localizes to the head-neck connection, which bridges the implantation fossa and basal body. METHODS: A male...

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Identifiers

PMID: 35860846
DOI: 10.1002/mgg3.2020
PMCID: PMC9482405

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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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