Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized
by multisystemic vascular dysplasia and recurrent haemorrhage. Linkage for some …

Hereditary haemorrhagic telangiectasia, or Osler–Rendu–Weber (ORW) syndrome, is an
autosomal dominant vascular dysplasia. So far, two loci have been demonstrated for ORW. …

Background The Sturge–Weber syndrome is a sporadic congenital neurocutaneous disorder
characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic …

… CJ Gallione did the sequencing and haplotype analyses and interpreted the results. GM
Repetto, E Legius, AK Rustgi, SL Schelley, G Mitchell, É Drouin, S Tejpar, and CJJ Westermann …

Cerebral cavernous malformations (CCM) are congenital vascular anomalies of the brain
that can cause significant neurological disabilities, including intractable seizures and …

… CJ Gallione1, … Letteboer TG, Zewald RA, Kamping EJ, de Haas G , Mager JJ, Snijder RJ,
Lindhout D , Hennekam FA, Westermann CJ, Ploos van Amstel JK. Hereditary hemorrhagic …

The activin receptor-like kinase 1 gene (ALK-1) is the second locus for the autosomal dominant
vascular disease hereditary hemorrhagic telangiectasia (HHT). In this paper we present …

Venous malformations are a common form of vascular anomaly that cause pain and disfigurement
and can be life threatening if they involve critical organs. They occur sporadically or in …

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber (ORW) disease is an
autosomal dominant vascular dysplasia. Initial linkage studies identified an ORW gene …

Purpose: The phenotypic manifestations of cerebral cavernous malformation disease caused
by rare PDCD10 mutations have not been systematically examined, and a mechanistic link …