Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. We report a 9-year-old boy referred for oligoarray...

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Detalles Bibliográficos
Autores principales: Najafi, Kimia, Kariminejad, Roxana, Hosseini, Kaveh, Moshtagh, Azadeh, Abbassi, Gole Maryam, Sadatian, Neda, Bazrgar, Masood, Kariminejad, Ariana, Kariminejad, Mohamad Hassan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241495/
https://www.ncbi.nlm.nih.gov/pubmed/28133555
http://dx.doi.org/10.1155/2017/2706098

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