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

• Glavni autori: Dominika Kaps-Kopiec (Autor), Andrzej Pławski (Autor), Magdalena Badura-Stronka (Autor), Mikołaj Teisseyre (Autor), Maciej Dądalski (Autor), Joanna Cielecka-Kuszyk (Autor), Joanna Pawłowska (Autor)
• Format: Knjiga
• Izdano: Termedia Publishing House, 2021-03-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

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...