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：

暂无

中图分类号：

学科分类号：

摘要：

引用

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