Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy-Reference-Cited by-同舟云学术

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

Published:2018-03-06 Issue:6 Volume:26 Page:796-807
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Low KJ,Stals K^ORCID,Caswell R^ORCID,Wakeling M,Clayton-Smith J,Donaldson A,Foulds N,Norman A,Splitt M^ORCID,Urankar K,Vijayakumar K,Majumdar A,Study DDD,Ellard S,Smithson SF

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0110-x.pdf

Reference21 articles.

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3. Laquerriere A, Maluenda J, Camus A, et al. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenital with axoglial defects. Hum Molec Genet. 2014;23:2279–89.

4. Philips JP, Warner LE, Lupski JR, et al. Congenital hypomyelinating neuropathy: two patients with long term follow up. Pediatr Neurol. 1999;20:226–32.

5. Nizon M, Cogne B, Vallat JM, et al. Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. Eur J Hum Genet. 2016;25:150–2.

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