Ontology highlight
ABSTRACT:
SUBMITTER: Bevan S
PROVIDER: S-EPMC1727626 | biostudies-other | 1999 Sep
REPOSITORIES: biostudies-other
Bevan S S Woodford-Richens K K Rozen P P Eng C C Young J J Dunlop M M Neale K K Phillips R R Markie D D Rodriguez-Bigas M M Leggett B B Sheridan E E Hodgson S S Iwama T T Eccles D D Bodmer W W Houlston R R Tomlinson I I
Gut 19990901 3
<h4>Background and aims</h4>Juvenile polyps occur in several Mendelian disorders, whether in association with gastrointestinal cancer alone (juvenile polyposis syndrome, JPS) or as part of known syndromes (Cowden, Gorlin, and Bannayan-Zonana) in association with developmental abnormalities, dysmorphic features, or extraintestinal tumours. Recently, some JPS families were shown to harbour germline mutations in the SMAD4 (DPC4) gene, providing further evidence for the importance of the TGFbeta sig ...[more]