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Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disease characterised by multiple distinct hamartomatous polyps in the gastrointestinal tract and an increased risk of colorectal cancer.1 A germline mutation in SMAD4 or BMPR1A is found in approximately 50%–60% of patients with JPS, suggesting existence of other genes that predispose to JPS.2 ,3 We investigated the recently reported SMAD9v90m mutation in our well-defined and genetically characterised cohort of patients with JPS.
The diagnosis of JPS is based on one of the following clinical criteria: (1) more than three to …
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