Article
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
American journal of human genetics - 1 Feb 1998
Wuyts W, Van Hul W, De Boulle K, Hendrickx J, Bakker E, Vanhoenacker F, Mollica F, Lüdecke H J, Sayli B S, Pazzaglia U E, Mortier G, Hamel B, Conrad E U, Matsushita M, Raskind W H, Willems P J
Abstract excerpt
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering complications caused by the pressure of these exostoses on the surrounding tissues, EXT patients are at an...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Chromosomes, Human, Pair 19
- Chromosomes, Human, Pair 8
- DNA Primers
- Exons
- Exostoses, Multiple Hereditary
- Family
- Female
- Frameshift Mutation
- Genes, Tumor Suppressor
- Humans
- Introns
- Male