Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

Male infertility is a major health concern. Among its different causes, multiple morphological abnormalities of the flagella (MMAF) induces asthenozoospermia and is one of the most severe forms of qualitative sperm defects. Sperm of affected men display short, coiled, absent, and/or irregular flagel...

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Pubblicato in:Am J Hum Genet
Autori principali: Coutton, Charles, Martinez, Guillaume, Kherraf, Zine-Eddine, Amiri-Yekta, Amir, Boguenet, Magalie, Saut, Antoine, He, Xiaojin, Zhang, Feng, Cristou-Kent, Marie, Escoffier, Jessica, Bidart, Marie, Satre, Véronique, Conne, Béatrice, Fourati Ben Mustapha, Selima, Halouani, Lazhar, Marrakchi, Ouafi, Makni, Mounir, Latrous, Habib, Kharouf, Mahmoud, Pernet-Gallay, Karin, Bonhivers, Mélanie, Hennebicq, Sylviane, Rives, Nathalie, Dulioust, Emmanuel, Touré, Aminata, Gourabi, Hamid, Cao, Yunxia, Zouari, Raoudha, Hosseini, Seyedeh Hanieh, Nef, Serge, Thierry-Mieg, Nicolas, Arnoult, Christophe, Ray, Pierre F.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6372258/
https://ncbi.nlm.nih.gov/pubmed/30686508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.12.013
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