Article
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Lancet (London, England) - 13 Mar 2004
Gallione Carol J, Repetto Gabriela M, Legius Eric, Rustgi Anil K, Schelley Susan L, Tejpar Sabine, Mitchell Grant, Drouin Eric, Westermann Cornelius J J, Marchuk Douglas A
Abstract excerpt
BACKGROUND: Juvenile polyposis and hereditary haemorrhagic telangiectasia are autosomal dominant disorders with distinct and non-overlapping clinical features. The former, an inherited gastrointestinal malignancy predisposition, is caused by mutations in MADH4 (encoding SMAD4) or BMPR1A, and the latter is a vascular malformation disorder caused by mutations in ENG (endoglin) or ACVRL1 (ALK1). All four genes...
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