Condition: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
rs104893891
in
GDNF-AS1;GDNF
gene and
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3
PMID 8968758
1996 De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.
PMID 10917288
2000 Pathogenesis of Hirschsprung's disease.
PMID 8896569
1996 Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
PMID 8896568
1996 Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.