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

Dominika Kaps-Kopiec; Andrzej Pławski; Magdalena Badura-Stronka; Mikołaj Teisseyre; Maciej Dądalski; Joanna Cielecka-Kuszyk; Joanna Pawłowska

doi:10.5114/polp.2021.104832

Streszczenie

1/2021 vol. 96

Opis przypadku

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

Dominika Kaps-Kopiec ¹

,

Andrzej Pławski ^{2, 3}

,

Magdalena Badura-Stronka ⁴

,

Mikołaj Teisseyre ¹

,

Maciej Dądalski ¹

,

Joanna Cielecka-Kuszyk ⁵

,

Joanna Pawłowska ¹

Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, Children’s Memorial Health Institute in Warsaw, Poland
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
Department of General, Endocrine Surgery and Gastroenterological Oncology, Poznan University of Medical Science, Poland
Department of Medical Genetics, Poznan University of Medical Sciences, Poland
Department of Pathology, Children’s Memorial Health Institute in Warsaw

Pediatr Pol 2021; 96 (1): 71–76

DOI: https://doi.org/10.5114/polp.2021.104832

Data publikacji online: 2021/03/28

Pełna treść artykułu

AMA

Kaps-Kopiec D, Pławski A, Badura-Stronka M, et al. 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. Pediatria Polska - Polish Journal of Paediatrics. 2021;96(1):71-76. doi:10.5114/polp.2021.104832.

APA

Kaps-Kopiec, D., Pławski, A., Badura-Stronka, M., Teisseyre, M., Dądalski, M., & Cielecka-Kuszyk, J. et al. (2021). 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. Pediatria Polska - Polish Journal of Paediatrics, 96(1), 71-76. https://doi.org/10.5114/polp.2021.104832

Chicago

Kaps-Kopiec, Dominika, Andrzej Pławski, Magdalena Badura-Stronka, Mikołaj Teisseyre, Maciej Dądalski, Joanna Cielecka-Kuszyk, and Joanna Pawłowska. 2021. "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". Pediatria Polska - Polish Journal of Paediatrics 96 (1): 71-76. doi:10.5114/polp.2021.104832.

Harvard

Kaps-Kopiec, D., Pławski, A., Badura-Stronka, M., Teisseyre, M., Dądalski, M., Cielecka-Kuszyk, J., and Pawłowska, J. (2021). 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. Pediatria Polska - Polish Journal of Paediatrics, 96(1), pp.71-76. https://doi.org/10.5114/polp.2021.104832

MLA

Kaps-Kopiec, Dominika et al. "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." Pediatria Polska - Polish Journal of Paediatrics, vol. 96, no. 1, 2021, pp. 71-76. doi:10.5114/polp.2021.104832.

Vancouver

Kaps-Kopiec D, Pławski A, Badura-Stronka M, Teisseyre M, Dądalski M, Cielecka-Kuszyk J et al. 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. Pediatria Polska - Polish Journal of Paediatrics. 2021;96(1):71-76. doi:10.5114/polp.2021.104832.

Streszczenie

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

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