Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing

Charcot-Marie-Tooth disease (CMT) is a common inherited peripheral neuropathy affecting up to 1 in 1214 of the general population with more than 60 nuclear genes implicated in its pathogenesis. Traditional molecular diagnostic pathways based on relative prevalence and clinical phenotyping are limite...

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Detalles Bibliográficos
Autores principales: Ho, Chi-Chun, Tai, Shuk-Mui, Lee, Edmond Chi-Nam, Mak, Timothy Shin-Heng, Liu, Timothy Kam-Tim, Tang, Victor Wai-Lun, Poon, Wing-Tat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412354/
https://www.ncbi.nlm.nih.gov/pubmed/28379183
http://dx.doi.org/10.3390/ijms18040770

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