Article
Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).
Human genetics - 1 Aug 1998
Svensson P J, Anvret M, Molander M L, Nordenskjöld A
Abstract excerpt
Hirschsprung disease is a congenital malformation affecting 1 in 5000 live births. The absence of parasympathetic neuronal ganglia (Meissner, Auerbach) in the hindgut results in poor coordination of peristaltic movement, and a varying degree of constipation. Four different genes have been implica...
Topics
- DNA Restriction Enzymes
- Drosophila Proteins
- Female
- Genetic Variation
- Glial Cell Line-Derived Neurotrophic Factor Receptors
- Hirschsprung Disease
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Proto-Oncogene Proteins
- Proto-Oncogene Proteins c-ret
- Receptor Protein-Tyrosine Kinases
- Receptor, Endothelin B
- Receptors, Endothelin