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Polyposis found on index colonoscopy in a 56-year-old female - BMPR1A variant in juvenile polyposis syndrome: A case report

BACKGROUND: Juvenile polyposis syndrome (JPS) is a rare hereditary polyposis disease frequently associated with an autosomal-dominant variant of the SMAD4 or BMPR1A gene. It often manifests with symptoms in children and adolescents and is infrequently diagnosed in asymptomatic adults. Establishing t...

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Detalles Bibliográficos
Autores principales: Wu, Michael Yulong, Toon, Christopher, Field, Michael, Wong, May
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10600688/
https://www.ncbi.nlm.nih.gov/pubmed/37900118
http://dx.doi.org/10.4253/wjge.v15.i10.623