Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular appr...
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants
About this item
Full title
Author / Creator
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 and Luchini, Claudio
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
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 variants of
SMAD4
or
BMPR1A
genes. Dif...
Alternative Titles
Full title
Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9636285
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9636285
Other Identifiers
ISSN
1389-9600
E-ISSN
1573-7292
DOI
10.1007/s10689-022-00289-x
