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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Publicat a:Eur J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5974240/
https://ncbi.nlm.nih.gov/pubmed/29511323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0110-x
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