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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...
שמור ב:
| הוצא לאור ב: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Springer International Publishing
2018
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| נושאים: | |
| גישה מקוונת: | 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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