Send to

Choose Destination
J Gastroenterol Hepatol. 2005 Nov;20(11):1634-40.

A review of juvenile polyposis syndrome.

Author information

Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Victoria, Australia.


Juvenile Polyposis Syndrome is an uncommon hamartomatous disorder with significant gastrointestinal malignant potential. Mutations in SMAD4 and BMPR1A, implicated in the Transforming Growth Factor beta pathway, have recently been characterized, and hold significance in the management of patients and at risk family members. This article reviews our knowledge to date of the genetics and clinicopathological features of the Juvenile Polyposis Syndrome, and discusses the current expert recommendations for genetic testing, disease screening and management.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center