Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

doi:10.1097/gim.0b013e31802d8373

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Article

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2007

Lesca Gaëtan, Olivieri Carla, Burnichon Nelly, Pagella Fabio, Carette Marie-France, Gilbert-Dussardier Brigitte, Goizet Cyril, Roume Joelle, Rabilloud Muriel, Saurin Jean-Christophe, Cottin Vincent, Honnorat Jerome, Coulet Florence, Giraud Sophie, Calender Alain, Danesino Cesare, Buscarini Elisabetta, Plauchu Henri

Abstract excerpt

PURPOSE: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by arteriovenous malformations (AVM), mostly cutaneous and mucous (telangiectases), but also involving the lungs (PAVM), liver (HAVM) and brain (CAVM). We studied the relationship between the phenotype and genotype in patients with a proven mutation in either ENG (HHT1) or ACVRL1 (HHT2). METHODS: Clinical features and...

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Identifiers

PMID: 17224686
DOI: 10.1097/gim.0b013e31802d8373

Genes

ACVRL1
ENG

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