Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

Charcot–Marie–Tooth disease type 4B2 with early-onset glaucoma (CMT4B2, OMIM 604563) is a genetically-heterogeneous childhood-onset neuromuscular disorder. Here, we report the case of a 15-year-old male adolescent with lower extremity weakness, gait abnormalities, foot deformities and early-onset gl...

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Detalles Bibliográficos
Autores principales: Chen, Meiyan, Wu, Jing, Liang, Ning, Tang, Lihui, Chen, Yanhua, Chen, Huishuang, Wei, Wei, Wei, Tianying, Huang, Hui, Yi, Xin, Qi, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411414/
https://www.ncbi.nlm.nih.gov/pubmed/25462154
http://dx.doi.org/10.1016/j.gpb.2014.09.003

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