Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

Pulmonary arteriovenous malformations (PAVMs) occur in up to 27% of patients with hereditary haemorrhagic telangiectasia (HHT) and are associated with a rate of paradoxical cerebral embolism at presentation of up to 36%. At least two different loci have been shown for HHT. Mutations in endoglin have...

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Hlavní autoři: Berg, J N, Guttmacher, A E, Marchuk, D A, Porteous, M E
Médium: Artigo
Jazyk:Inglês
Vydáno: 1996
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051882/
https://ncbi.nlm.nih.gov/pubmed/8728706
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