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Article

Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers.

Clinical and translational gastroenterology - 1 Oct 2022

Rosner Guy, Petel-Galil Yael, Laish Ido, Levi Zohar, Kariv Revital, Strul Hana, Gilad Ophir, Gluck Nathan

Abstract excerpt

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 a retrospective cohort of individuals with SMAD4 or BMPR1A heterozygous germline variants, having ≥10 cumulative colorectal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36049049
DOI: 10.14309/ctg.0000000000000527
PMCID: PMC9624493

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