Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia caused by the SMAD4 gene mutation in a paediatric patient – a case report and a review of the literature

Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia caused by the SMAD4 gene mutation in a paediatric patient – a case report and a review of the literature

Germline mutations in the SMAD4 gene cause juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. In some cases, the coexistence of these 2 syndromes can be observed among probands with the mutation in the SMAD4 gene. A combined syndrome of juvenile polyps of the gastrointestinal tr...

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Bibliographic Details
Main Authors: Dominika Kaps-Kopiec, Andrzej Pławski, Magdalena Badura-Stronka, Mikołaj Teisseyre, Maciej Dądalski, Joanna Cielecka-Kuszyk, Joanna Pawłowska
Format: Article
Language:English
Published: Termedia Publishing House 2021-03-01
Series:Pediatria Polska
Subjects:
cancer
polyps
telangiectasia
organ arteriovenous malformations.
Online Access:https://www.termedia.pl/Juvenile-polyposis-syndrome-and-hereditary-haemorrhagic-telangiectasia-caused-by-the-SMAD4-gene-mutation-in-a-paediatric-patient-a-case-report-and-a-review-of-the-literature,127,43675,1,1.html

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