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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Dades bibliogràfiques
Publicat a:Case Rep Genet
Autors principals: Najafi, Kimia, Kariminejad, Roxana, Hosseini, Kaveh, Moshtagh, Azadeh, Abbassi, Gole Maryam, Sadatian, Neda, Bazrgar, Masood, Kariminejad, Ariana, Kariminejad, Mohamad Hassan
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2017
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5241495/
https://ncbi.nlm.nih.gov/pubmed/28133555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/2706098
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