A New <i>SMAD4</i> Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

A New <i>SMAD4</i> Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by hyperplastic polyps in the upper and lower gastrointestinal (GI) tract with a high risk of developing GI cancers. We have described a three-generation Italian family with all the spectrum of <i>SMAD4</i>...

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Bibliographic Details
Main Authors: Caterina Micolonghi, Maria Piane, Aldo Germani, Soha Sadeghi, Fabio Libi, Camilla Savio, Marco Fabiani, Rita Mancini, Danilo Ranieri, Antonio Pizzuti, Vito Domenico Corleto, Pasquale Parisi, Vincenzo Visco, Giovanni Di Nardo, Simona Petrucci
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Diagnostics
Subjects:
juvenile polyposis syndrome
<i>SMAD4</i>
splice site variant
Online Access:https://www.mdpi.com/2075-4418/12/11/2684

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https://www.mdpi.com/2075-4418/12/11/2684

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