Article
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.
American journal of human genetics - 6 Sept 2018
Kherraf Zine-Eddine, Amiri-Yekta Amir, Dacheux Denis, Karaouzène Thomas, Coutton Charles, Christou-Kent Marie, Martinez Guillaume, Landrein Nicolas, Le Tanno Pauline, Fourati Ben Mustapha Selima, Halouani Lazhar, Marrakchi Ouafi, Makni Mounir, Latrous Habib, Kharouf Mahmoud, Pernet-Gallay Karin, Gourabi Hamid, Robinson Derrick R, Crouzy Serge, Blum Michael, Thierry-Mieg Nicolas, Touré Aminata, Zouari Raoudha, Arnoult Christophe, Bonhivers Mélanie, Ray Pierre F
Abstract excerpt
Multiple morphological abnormalities of the sperm flagellum (MMAF) is a severe form of male infertility defined by the presence of a mosaic of anomalies, including short, bent, curled, thick, or absent flagella, resulting from a severe disorganization of the axoneme and of the peri-axonemal structures. Mutations in DNAH1, CFAP43, and CFAP44, three genes encoding axoneme-related proteins, have been described to...
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