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Article

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.

Journal of medical genetics - 1 May 2011

Best D Hunter, Vaughn Cecily, McDonald Jamie, Damjanovich Kristy, Runo James R, Chibuk Jason M, Bayrak-Toydemir Pinar

Abstract excerpt

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. HHT is commonly characterised by small arteriovenous malformations (AVMs) known as telangiectasias of the skin, oral or gastrointestinal mucosa, as well as larger AVMs of solid organs (lungs, liver, brain). However, the manifestations of HHT are extremely variable. Two patients...

Topics

Activin Receptors, Type II
Adult
Antigens, CD
Base Sequence
Endoglin
Exons
Female
Humans
Middle Aged
Mosaicism
Mutation
Receptors, Cell Surface

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 21378382
DOI: 10.1136/jmg.2010.088286

Genes

ACVRL1
ENG
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.PMID 21378382Read ↗

Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University HospitalSemantic proximity Read ↗

Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

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Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.Semantic proximity Read ↗

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.Semantic proximity Read ↗

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