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

Abstract Background Hydrocephalus is one of the most common pathophysiological disabilities with a high mortality rate, which occurs both congenitally and acquired. It is estimated that genetic components are the etiology for up to 40% of hydrocephalus cases; however, causal mutations identified unt...

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Principais autores:	Masoud Sabzeghabaiean, Mohsen Maleknia, Javad Mohammadi-Asl, Hashem Kazemi, Fereshteh Golab, Zohreh Zargar, Maryam Naseroleslami
Formato:	Artigo
Idioma:	Inglês
Publicado:	SpringerOpen 2024-03-01
Series:	Egyptian Journal of Medical Human Genetics
Assuntos:	Hydrocephalus Whole-exome sequencing POMGNT1 Nonsense variant
Acceso en liña:	https://doi.org/10.1186/s43042-024-00513-6
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