Condition: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease


rs267607081 in SOX10;POLR2F gene and Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease PMID 21898658 2011 Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

PMID 15004559 2004 Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.

PMID 10762540 2000 Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.

PMID 19208381 2009 Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.