Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.
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DOI: 10.1002/jpn3.12257
Abstract: OBJECTIVE A constitutional disease-causing variant (DCV) in the SMAD4 or BMPR1A genes is present in 40%-60% of patients with juvenile polyposis syndrome (JPS). The aim of this study was to characterize the clinical course and… read more here.
Keywords: polyposis; dcv negative; jps; dcv positive ... See more keywords