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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752308/
https://www.ncbi.nlm.nih.gov/pubmed/29895858
http://dx.doi.org/10.1038/s41436-018-0015-7

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