Pathology
germline mutation in the EDN3 gene in
- Waardenburg-Shah syndrome (MIM.277580)
- congenital central hypoventilation syndrome (MIM.209880)
- isolated and sporadic Hirschsprung disease without Waardenburg features (MIM.142623)
- sporadic short segment Hirschsprung disease (MIM.142623)
See also
EDNs
EDNRs
Hirschsprung disease genes
| RET | GDNF | NTRN | SOX10 | EDNRB | EDN3 | ECE1 | ZFHX1B | PHOX2B | TCF4 |