A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

By C. Gallione, G. Repetto, E. Legius, A. Rustgi, S. Schelley, S. Tejpar, Grant A. Mitchell, É. Drouin, C. Westermann, D. Marchuk. The Lancet, 2004

787 citations recorded by the source corpus.

Subfields: Genetics, Surgery

View Paper: https://www.semanticscholar.org/paper/0f7ad6f77476d0bf7ea31b231dc40967e750ac8b

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In Genetics

1. J. Piccirillo
2. A. Guttmacher

Citations in the corpus

• International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia (2009, background): “gene can cause a rare syndrome which combines juvenile polyposis and HHT.”
• Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society (2015, background): “Moreover, mutations in the SMAD4 gene have been linked to HHT and juvenile polyposis and HHT.(158,159) The genetics of PAH are complex because of the incomplete penetrance.”