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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Sepehr Javadikooshesh, Hooshang Zaimkohan, Parisa Pourghorban, Fatemeh Bahramim, Nader Ebadi
Formato: article
Lenguaje:EN
Publicado: Shiraz University of Medical Sciences 2021
Materias:
Acceso en línea:https://doaj.org/article/3ef2fd1a7b6e41edb1341fb032085209
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares