Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.

Shlomi CohenAnat Yerushalmy-FelerIsabel RojasClaudia PhenDavid A RudnickColleen B FlahiveSteven H ErdmanRamit Magen-RimonIvana CopovaThomas AttardAndrew LatchfordWarren Hyer

Published in: Journal of pediatric gastroenterology and nutrition (2024)

This largest international cohort of pediatric JPS revealed that DCV-positive and DCV-negative children exhibit distinct clinical phenotype. These findings suggest a potential need of differentiated surveillance strategies based upon mutation status.

Keyphrases

young adults
public health
pulmonary arterial hypertension
epithelial mesenchymal transition
transforming growth factor
risk factors
signaling pathway