Article
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
Human molecular genetics - 1 Nov 1998
Houlston R, Bevan S, Williams A, Young J, Dunlop M, Rozen P, Eng C, Markie D, Woodford-Richens K, Rodriguez-Bigas M A, Leggett B, Neale K, Phillips R, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Tomlinson I
Abstract excerpt
Juvenile polyps are present in a number of Mendelian disorders, sometimes in association only with gastrointestinal cancer [juvenile polyposis syndrome (JPS)] and sometimes as part of known syndromes (Cowden, Gorlin and Banayan-Zonana) in association with developmental abnormalities, dysmorphic f...
Topics
- DNA-Binding Proteins
- Female
- Gastrointestinal Neoplasms
- Genes, Tumor Suppressor
- Germ-Line Mutation
- Hamartoma Syndrome, Multiple
- Haplotypes
- Humans
- Intestinal Polyps
- Lod Score
- Male
- Microsatellite Repeats
- Mutation