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>...

সম্পূর্ণ বিবরণ

গ্রন্থ-পঞ্জীর বিবরন
প্রধান লেখক: 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
বিন্যাস: প্রবন্ধ
ভাষা:English
প্রকাশিত: MDPI AG 2022-11-01
মালা:Diagnostics
বিষয়গুলি:
juvenile polyposis syndrome
<i>SMAD4</i>
splice site variant
অনলাইন ব্যবহার করুন:https://www.mdpi.com/2075-4418/12/11/2684

আন্তর্জাল

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

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