Article
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
Journal of medical genetics - 1 Aug 1994
Edery P, Pelet A, Mulligan L M, Abel L, Attié T, Dow E, Bonneau D, David A, Flintoff W, Jan D
Abstract excerpt
Hirschsprung's disease (aganglionic megacolon, HSCR) is a frequent condition of unknown origin (1/5000 live births) resulting in intestinal obstruction in neonates and severe constipation in infants and adults. In the majority of cases (80%), the aganglionic tract involves the rectum and the sigm...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- Colon
- Colon, Sigmoid
- DNA Mutational Analysis
- Drosophila Proteins
- Female
- Genotype
- Hirschsprung Disease
- Humans
- Likelihood Functions
- Lod Score
- Male
- Pedigree
- Phenotype