Article
Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.
Journal of pediatric gastroenterology and nutrition - 1 Jul 2024
Cohen Shlomi, Yerushalmy-Feler Anat, Rojas Isabel, Phen Claudia, Rudnick David A, Flahive Colleen B, Erdman Steven H, Magen-Rimon Ramit, Copova Ivana, Attard Thomas, Latchford Andrew, Hyer Warren
Abstract excerpt
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 polyp burden in children with DCV-positive JPS compared to DCV-negative JPS. METHODS: Demographic, clinical, genetic, and endoscopic data of children with JPS were compiled from eight...
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