Article
Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.
Molecular genetics and genomics : MGG - 1 Mar 2023
Khorram Erfan, Tabatabaiefar Mohammad Amin, Yaghini Omid, Khorrami Mehdi, Yazdani Vida, Fakhr Fatemeh, Amini Masoomeh, Kheirollahi Majid
Abstract excerpt
Griscelli syndrome type 1 (GS1) is a rare inherited autosomal recessive disease caused by a deleterious variant in the MYO5A gene and characterized by general hypopigmentation, neurological symptoms, motor disability, hypotonia, and vision abnormality. Only nine pathogenic variants in the MYO5A gene have been confirmed in association with the GS1. All of the reported pathogenic variants are truncating. Herein,...
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