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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, telangiectases, and multiorgan vascular dysplasia. The two major types of disease, HHT1 and HHT2, are caused by mutations in the ENG (endoglin) and ACVRL1 genes, respectively. The corresponding...
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| Autores principales: | , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Group
2006
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2603035/ https://ncbi.nlm.nih.gov/pubmed/15879500 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.030833 |
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