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Article

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2020

McDonald Jamie, Bayrak-Toydemir Pinar, DeMille Desiree, Wooderchak-Donahue Whitney, Whitehead Kevin

Abstract excerpt

PURPOSE: Determine the variant detection rate for ENG, ACVRL1, and SMAD4 in individuals who meet consensus (Curaçao) criteria for the clinical diagnosis of hereditary hemorrhagic telangiectasia. METHODS: Review of HHT center database for individuals with three or more HHT diagnostic criteria, in whom molecular genetic analysis for ENG, ACVRL1, and SMAD4 had been performed. RESULTS: A variant known or suspected to...

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Source

Identifiers

PMID: 32300199
DOI: 10.1038/s41436-020-0775-8

Genes

ACVRL1
ENG
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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