A homozygous FANCM frameshift pathogenic variant causes male infertility
A homozygous FANCM frameshift pathogenic variant causes male infertility
About this item
Full title
Author / Creator
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 and Shi, Qinghua
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
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 infertile brothers, two manifesting oligoasthenospermia and one...
Alternative Titles
Full title
A homozygous FANCM frameshift pathogenic variant causes male infertility
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752308
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752308
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0015-7
