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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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| Published in: | Neurol Genet |
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| Main Authors: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Wolters Kluwer
2017
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| Subjects: | |
| Online Access: | 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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