Pathology
germline mutations of EDNRB in
- Hirschsprung disease (MIM.600155)
- Waardenburg-Shah syndrome (Waardenburg syndrome and Hirschsprung disease) (MIM.277580)
- ABCD syndrome (MIM.600501)
See also
EDNs (endothelins)
Hirschsprung disease genes
| RET | GDNF | NTRN | SOX10 | EDNRB | EDN3 | ECE1 | ZFHX1B | PHOX2B | TCF4 |