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Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants

Juvenile polyposis (JP) is a rare familial syndrome characterized by the development of numerous hamartomatous polyps of the gastrointestinal tract and by an increased risk of developing gastrointestinal cancers. It follows a pattern of autosomal dominant inheritance and is associated with germline...

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Detalles Bibliográficos
Autores principales:	Mafficini, Andrea, Brosens, Lodewijk A. A., Piredda, Maria L., Conti, Cristian, Mattiolo, Paola, Turri, Giulia, Mastrosimini, Maria G., Cingarlini, Sara, Crinò, Stefano F., Fassan, Matteo, Piccoli, Paola, Simbolo, Michele, Nottegar, Alessia, Lawlor, Rita T., Guglielmi, Alfredo, Scarpa, Aldo, Pedrazzani, Corrado, Luchini, Claudio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9636285/ https://www.ncbi.nlm.nih.gov/pubmed/35075588 http://dx.doi.org/10.1007/s10689-022-00289-x

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