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Article

Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.

Journal of Korean medical science - 1 Feb 2009

Lee Seung-Tae, Kim Jee-Ah, Jang Shin-Yi, Kim Duk-Kyung, Do Young Soo, Suh Gee Young, Kim Jong-Won, Ki Chang-Seok

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder that is characterized by abnormal communication between the arteries and veins in the skin, mucosa, and various organs. HHT has been reported to show significant phenotypic variability and genetic heterogeneity with wide ethnic and geographic variations. Although mutations in the endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1)...

Topics

Activin Receptors, Type II
Adult
Alleles
Angiography
Antigens, CD
Asian People
Base Sequence
Endoglin
Female
Genetic Predisposition to Disease
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Korea

Male

Middle Aged

Mutation

Pedigree

Receptors, Cell Surface

Smad4 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 19270816
DOI: 10.3346/jkms.2009.24.1.69
PMCID: PMC2650970

Genes

ENG
ACVRL1
SMAD4

Variants

Provenance

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

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