A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report

Abstract Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the GBA gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the GBA gene in the Tunisian population. A female Arab patient was assessed at the age of 26 due to ab...

Full description

Bibliographic Details
Main Authors: Houweyda Jilani, Faten Hsoumi, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Molka Sebai, Arndt Rolfs, Lamia Benjemaa
Format: Article
Language:English
Published: Wiley 2022-05-01
Series:Clinical Case Reports
Subjects:
Gaucher disease
GBA gene
p.Arg87Trp
R48W
rare pathogenic variant
Online Access:https://doi.org/10.1002/ccr3.5846

Internet

https://doi.org/10.1002/ccr3.5846

Similar Items