Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.

Abstract excerpt

Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous dominant disorder. Two disease loci have been mapped to chromosomes 9q3 and 12q. In a large pedigree, with an unusually high number of patients with liver vascular malformations, both previously mapped loci have been excluded. The loci for two other inherited vascular malformation diseases, cerebral cavernous malformations and multiple...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Vascular Anomalies and Treatments
• Share to Vascular Malformations and Hemangiomas
• Share to Vascular Malformations Diagnosis and Treatment