Article
From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene.
Asian journal of andrology - 1 Jan 2000
Kherraf Zine-Eddine, Cazin Caroline, Lestrade Florence, Muronova Jana, Coutton Charles, Arnoult Christophe, Thierry-Mieg Nicolas, Ray Pierre F
Abstract excerpt
Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing (WES), many genes have now been linked to severe sperm defects. A precise genetic diagnosis is obtained for a minority of patients and only for the most severe defects like azoospermia or macrozoospermia which is very often due to defects in the aurora kinase C (AURKC gene. Here, we studied a subject with a severe...
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