Ontology highlight
ABSTRACT:
SUBMITTER: Kherraf ZE
PROVIDER: S-EPMC6128304 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Kherraf Zine-Eddine ZE Amiri-Yekta Amir A Dacheux Denis D Karaouzène Thomas T Coutton Charles C Christou-Kent Marie M Martinez Guillaume G Landrein Nicolas N Le Tanno Pauline P Fourati Ben Mustapha Selima S Halouani Lazhar L Marrakchi Ouafi O Makni Mounir M Latrous Habib H Kharouf Mahmoud M Pernet-Gallay Karin K Gourabi Hamid H Robinson Derrick R DR Crouzy Serge S Blum Michael M Thierry-Mieg Nicolas N Touré Aminata A Zouari Raoudha R Arnoult Christophe C Bonhivers Mélanie M Ray Pierre F PF
American journal of human genetics 20180816 3
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 account for approximately 30% of the MMAF cases reported so far. Here, we searched for ...[more]