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

• Main Authors: Dominika Kaps-Kopiec (Author), Andrzej Pławski (Author), Magdalena Badura-Stronka (Author), Mikołaj Teisseyre (Author), Maciej Dądalski (Author), Joanna Cielecka-Kuszyk (Author), Joanna Pawłowska (Author)
• Format: Book
• Published: Termedia Publishing House, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...