Article
Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene.
Journal of pediatric surgery - 1 Feb 1998
Decker R A, Peacock M L
Abstract excerpt
PURPOSE: The association of the rare hereditary cancer syndrome, multiple endocrine neoplasia type 2a (MEN 2a) with Hirschsprung's disease, both linked to germline mutations in the RET proto-oncogene, has been reported recently. With the widespread availability of genetic screening for MEN 2a, it...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosomes, Human, Pair 10
- Drosophila Proteins
- Female
- Genetic Testing
- Hirschsprung Disease
- Humans
- Male
- Middle Aged
- Multiple Endocrine Neoplasia Type 2a
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Prevalence