HHs |
HHT2 |
quiescence-specific protein |
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[hereditary hemorrhagic telangiectasia type 1] This autosomal dominant vascular disorder is one of the clinical forms of hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber syndrome (abbr. ORW; also: Rendu-Osler-Weber syndrome), an autosomal dominant vascular disease (angiodysplasia) that is associated with epistaxis, mucocutaneous and gastrointestinal telangiectases, and arteriovenous malformations (Shovlin et al, 2010).
The particular type 1 clinical entity (ORW1) has been linked to mutations in the gene encoding endoglin (Lenato and Guanti, 2006). Other clinically indistinguishable manifestations of the disease are caused by mutations in another gene encoding a protein related to Activin A receptor type 2 (see: ACVRL1 [
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