Associated Papers
Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.
Liu T et al.
Asian Journal of Andrology, 2025
Case Report: A homozygous mutation in the SPAG17 gene in a case with oligoasthenoteratozoospermic infertility.
Sethi S et al.
Frontiers in Reproductive Health, 2025
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Ascari G et al.
Human Mutation, 2020
31999394 (PubMed )
Supplement: HUMU-41-998-s001.docx
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
Córdova-Fletes C et al.
European Journal of Medical Genetics, 2018
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