Condition: Waardenburg Syndrome, Type 4c
rs121909117
in
POLR2F;SOX10
gene and
Waardenburg Syndrome, Type 4c
PMID 18348274
2008 A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
PMID 21898658
2011 Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
PMID 9462749
1998 SOX10 mutations in patients with Waardenburg-Hirschsprung disease.