CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

OBJECTIVE: To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the CNTNAP1 gene. METHODS: In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the CNTNAP1 gene using whole-exome sequencing. A...

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Publicado no:Neurol Genet
Main Authors: Hengel, Holger, Magee, Alex, Mahanjah, Muhammad, Vallat, Jean-Michel, Ouvrier, Robert, Abu-Rashid, Mohammad, Mahamid, Jamal, Schüle, Rebecca, Schulze, Martin, Krägeloh-Mann, Ingeborg, Bauer, Peter, Züchner, Stephan, Sharkia, Rajech, Schöls, Ludger
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5363873/
https://ncbi.nlm.nih.gov/pubmed/28374019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000144
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