Hereditary hemorrhagic telangiectasia: A disorder in search of the genetics community
โ Scribed by Guttmacher, Alan E. ;McKinnon, Wendy C. ;Upton, Michael D.
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 142 KB
- Volume
- 52
- Category
- Article
- ISSN
- 0148-7299
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Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage from the sites of vascular lesions. Two genes have been identified for HHT. Endoglin, a TGF-b binding protein which maps to chromosome 9q3, is the
Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystemic vascular dysplasia and recurrent hemorrhage. One of the causative genes is the activin receptor-like kinase-1 (ALK-1) gene located on chromosome 12q13. ALK-1 is an endothelial cell type I rec