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

• Asıl Yazarlar: Dominika Kaps-Kopiec (Yazar), Andrzej Pławski (Yazar), Magdalena Badura-Stronka (Yazar), Mikołaj Teisseyre (Yazar), Maciej Dądalski (Yazar), Joanna Cielecka-Kuszyk (Yazar), Joanna Pawłowska (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Termedia Publishing House, 2021-03-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...