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Article

Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.

Iranian journal of medical sciences - 1 Nov 2021

Javadikooshesh Sepehr, Zaimkohan Hooshang, Pourghorban Parisa, Bahramim Fatemeh, Ebadi Nader

Abstract excerpt

Pelizaeus-Merzbacher-Like Disease 1 is a genetic disorder affecting the central nervous system with an autosomal recessive inheritance pattern. It is a rare genetic disorder that affects the central nervous system. In this report, we demonstrated the clinical and paraclinical features of an Iranian consanguine pedigree with suspected hypomyelinating leukodystrophy, without any defined diagnosis. The proband, a...

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Identifiers

PMID: 34840390
DOI: 10.30476/IJMS.2021.87126.1736
PMCID: PMC8611227

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