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Article

Homozygous Loss of Septin12, but not its Haploinsufficiency, Leads to Male Infertility and Fertilization Failure

25 Apr 2022

Abstract excerpt

The SEPTIN12 gene has been associated with male infertility. Male Septin12+/− chimera mice were infertile, supporting the prevailing view that SEPTIN12 haploinsufficiency causes male infertility. In this study, we identified a heterozygous mutation on SEPTIN12, c.72C>A (p.Cys24Ter) in the male partner of a patient couple, who had a previous fertilization failure (FF) after intracytoplasmic sperm injection (ICSI)...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Identifiers

PMID: 35547809
DOI: 10.3389/fcell.2022.850052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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