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Biallelic mutations in PMFBP1 cause acephalic spermatozoa

9 Oct 2018

Abstract excerpt

The majority of men with defects in spermatogenesis remain undiagnosed. Acephalic spermatozoa is one of the diseases causing primary infertility. However, the causes underlying over half of affected cases remain unclear. Here, we report by whole-exome sequencing the identification of homozygous and compound heterozygous truncating mutations in PMFBP1 of two unrelated individuals with acephalic spermatozoa. PMFBP1...

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PMID: 30298696
DOI: 10.1111/cge.13461

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