Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome

Acephalic spermatozoa syndrome is a rare and severe form of teratozoospermia characterized by a predominance of headless spermatozoa in the ejaculate. Family clustering and consanguinity suggest a genetic origin; however, causative mutations have yet to be identified. We performed whole-exome sequen...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Zhu, Fuxi, Wang, Fengsong, Yang, Xiaoyu, Zhang, Jingjing, Wu, Huan, Zhang, Zhou, Zhang, Zhiguo, He, Xiaojin, Zhou, Ping, Wei, Zhaolian, Gecz, Jozef, Cao, Yunxia
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065659/
https://ncbi.nlm.nih.gov/pubmed/27640305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.08.004
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