Kategorie:
PubID
Gen
MIM
8630502 Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
EDN3
9279758 Waardenburg syndrome.
EDNRB
1370874 Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism
KIT
26522471 Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
KITLG
9279758 Waardenburg syndrome.
MITF
9279758 Waardenburg syndrome.
PAX3
SMOC1
12444107 SLUG (SNAI2) deletions in patients with Waardenburg disease.
SNAI2
9462749 SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
SOX10