The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

被引：0
作者：
Masoud Sabzeghabaiean
Mohsen Maleknia
Javad Mohammadi-Asl
Hashem Kazemi
Fereshteh Golab
Zohreh Zargar
Maryam Naseroleslami
机构：
[1] Islamic Azad University,Department of Cellular and Molecular Biology, Faculty of Advanced Science and Technology, Tehran Medical Sciences
[2] Molecular Research Center,Noorgene Genetic and Clinical Laboratory
[3] Iran University of Medical Sciences,Cellular and Molecular Research Center
[4] Ahvaz Jundishapur University of Medical Sciences,Cancer, Petroleum and Environmental Pollutants Research Center
来源：
Egyptian Journal of Medical Human Genetics | / 25卷
关键词：
Hydrocephalus; Whole-exome sequencing; POMGNT1; Nonsense variant;
D O I：
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