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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Autores principales: | Sepehr Javadikooshesh, Hooshang Zaimkohan, Parisa Pourghorban, Fatemeh Bahramim, Nader Ebadi |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Shiraz University of Medical Sciences
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/3ef2fd1a7b6e41edb1341fb032085209 |
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