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

Sabzeghabaiean, Masoud; Maleknia, Mohsen; Mohammadi-Asl, Javad; Kazemi, Hashem; Golab, Fereshteh; Zargar, Zohreh; Naseroleslami, Maryam

doi:10.1186/s43042-024-00513-6

Egyptian Journal of Medical Human Genetics

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Last updated: Tue, 14 May 2024 16:09:44 Z

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

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