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Article

A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: a case report.

Molecular medicine reports - 1 Jul 2015

Lu Yanjun, Zhu Yaowu, Shi Lili, Zhen Hongtao, Sun Ziyong, Cheng Liming

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by aberrant vascular development. Mutations in two genes, endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1) are associated with HHT. The present case study revealed the molecular diagnosis in a family exhibiting the clinical features of HHT disease. The coding exon and flanking intronic regions of the ENG and...

Topics

Adult
Antigens, CD
Base Sequence
Endoglin
Exons
Female
Humans
Male
Mutation
Pedigree
Receptors, Cell Surface
Telangiectasia, Hereditary Hemorrhagic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25760803
DOI: 10.3892/mmr.2015.3442

Genes

ENG
ACVRL1

Variants

Provenance

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

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