Neurodegenerative Disorder and Diffuse Brain Calcifications Due to Mutation in Two Siblings

Overview

Journal Clin Case Rep

Date 2022 Aug 8

PMID 35937029

Authors

Parvaneh Karimzadeh

Sepideh Rezakhani

Mohammad Miryounesi

Sahar Alijanpour

Affiliations

Soon will be listed here.

Abstract

Pathogenic mutations in the gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygous pathogenic missense variant, : NM_005687.4:c.853G > A:p.E285K in both affected patients. The parents were heterozygous for this variant.

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