Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

CHN is genetically heterogeneous and its genetic basis is difficult to determine on features alone. CNTNAP1 encodes CASPR, integral in the paranodal junction high molecular mass complex. Nineteen individuals with biallelic variants have been described in association with severe congenital hypomyelin...

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Detalles Bibliográficos
Autores principales: Low, KJ, Stals, K, Caswell, R, Wakeling, M, Clayton-Smith, J, Donaldson, A, Foulds, N, Norman, A, Splitt, M, Urankar, K, Vijayakumar, K, Majumdar, A, Study, DDD, Ellard, S, Smithson, SF
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974240/
https://www.ncbi.nlm.nih.gov/pubmed/29511323
http://dx.doi.org/10.1038/s41431-018-0110-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974240/
https://www.ncbi.nlm.nih.gov/pubmed/29511323
http://dx.doi.org/10.1038/s41431-018-0110-x

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