Inherited Peripheral Neuropathies Mutation Database

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Reference

Title Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation.
Authors Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P
Reference Ann Neurol 48: 671-676, 2000 (PubMed ID: 11026454 )
SOX10: (Glu265fs)
Mutations

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