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- Title
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
- Authors
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
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 encode proteins involved in the transforming-growth-factor-beta signalling pathway. Although there are reports of patients and families with phenotypes of both disorders combined, the genetic aetiology of this association is unknown.
- Publication
Lancet (London, England), 2004, Vol 363, Issue 9412, p852
- ISSN
1474-547X
- Publication type
Journal Article
- DOI
10.1016/S0140-6736(04)15732-2