Inherited Peripheral Neuropathies Mutation Database

Home | Inherited Peripheral Neuropathies |
Lookup Mutations | Newest Entries | Submit Mutation | Table Legend |
About IPN | Contact |

IPN Mutations

small logo


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)

About Us | Contact Us | ©2007 Department of Molecular Genetics - VIB8