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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Detalles Bibliográficos
Autores principales: Javadikooshesh, Sepehr, Zaimkohan, Hooshang, Pourghorban, Parisa, Bahramim, Fatemeh, Ebadi, Nader
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shiraz University of Medical Sciences 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8611227/
https://www.ncbi.nlm.nih.gov/pubmed/34840390
http://dx.doi.org/10.30476/IJMS.2021.87126.1736

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8611227/
https://www.ncbi.nlm.nih.gov/pubmed/34840390
http://dx.doi.org/10.30476/IJMS.2021.87126.1736

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