Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers
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DOI: 10.14309/ctg.0000000000000527
Abstract: INTRODUCTION: Variants in SMAD4 or BMPR1A cause juvenile polyposis syndrome, a rare autosomal dominant condition characterized by multiple gastrointestinal hamartomatous polyps. A phenotype of attenuated adenomatous polyposis without hamartomatous polyps is rare. METHODS: We describe… read more here.
Keywords: bmpr1a; phenotype; adenomatous polyposis; polyposis phenotype ... See more keywords