Biblio
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice. Am J Hum Genet. 2021.
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Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression. Cell Discov. 2023;9(1):87.
Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype. Clin Genet. 2022.
Novel homozygous variants in cause male infertility with asthenoteratozoospermia owing to dynein arm complex and mitochondrial sheath defects in flagella. Front Cell Dev Biol. 2023;11:1184331.
Novel SPEF2 variants cause male infertility and likely primary ciliary dyskinesia. J Assist Reprod Genet. 2024.