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

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...

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Auteurs principaux: Sepehr Javadikooshesh, Hooshang Zaimkohan, Parisa Pourghorban, Fatemeh Bahramim, Nader Ebadi
Format: article
Langue:EN
Publié: Shiraz University of Medical Sciences 2021
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Accès en ligne:https://doaj.org/article/3ef2fd1a7b6e41edb1341fb032085209
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