A homozygous FANCM frameshift pathogenic variant causes male infertility

PURPOSE: Fanconi anemia (FA) genes play important roles in spermatogenesis. In mice, disruption of Fancm impairs male fertility and testicular integrity, but whether FANCM pathogenic variants (PV) similarly affect fertility in men is unknown. Here we characterize a Pakistani family having three infe...

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Publicado no:Genet Med
Main Authors: Yin, Hao, Ma, Hui, Hussain, Sajjad, Zhang, Huan, Xie, Xuefeng, Jiang, Long, Jiang, Xiaohua, Iqbal, Furhan, Bukhari, Ihtisham, Jiang, Hanwei, Ali, Asim, Zhong, Liangwen, Li, Tao, Fan, Suixing, Zhang, Beibei, Gao, Jianing, Li, Yang, Nazish, Jabeen, Khan, Teka, Khan, Manan, Zubair, Muhammad, Hao, Qiaomei, Fang, Hui, Huang, Jun, Huleihel, Mahmoud, Sha, Jiahao, Pandita, Tej K., Zhang, Yuanwei, Shi, Qinghua
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752308/
https://ncbi.nlm.nih.gov/pubmed/29895858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0015-7
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