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Article

Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.

International journal of molecular sciences - 22 Feb 2021

Cazin Caroline, Boumerdassi Yasmine, Martinez Guillaume, Fourati Ben Mustapha Selima, Whitfield Marjorie, Coutton Charles, Thierry-Mieg Nicolas, Di Pizio Pierre, Rives Nathalie, Arnoult Christophe, Touré Aminata, Ray Pierre F, Zouari Raoudha, Sifer Christophe, Kherraf Zine-Eddine

Abstract excerpt

Acephalic spermatozoa syndrome (ASS) is a rare but extremely severe type of teratozoospermia, defined by the presence of a majority of headless flagella and a minority of tail-less sperm heads in the ejaculate. Like the other severe monomorphic teratozoospermias, ASS has a strong genetic basis and is most often caused by bi-allelic variants in SUN5 (Sad1 and UNC84 domain-containing 5). Using whole exome...

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Identifiers

PMID: 33671757
DOI: 10.3390/ijms22042187
PMCID: PMC7927044

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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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