Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in <i>ENG</i> and <i>ACVRL1</i>

Our results support the notion that HHT is underdiagnosed and that HHT prevalence may be above the threshold of a rare disease.

Authors

Anthony R. Anzell (ORCID: https://orcid.org/0000-0002-2870-1074)
Jenna C. Carlson (ORCID: https://orcid.org/0000-0001-5483-0833)
Beth L. Roman (ORCID: https://orcid.org/0000-0002-1250-1705)
Brenda Diergaarde (ORCID: https://orcid.org/0000-0002-3578-6547)
Charles C. White (ORCID: https://orcid.org/0009-0009-2377-8556)

Institutions

University of Pittsburgh (US)
Department of Health (TW)
UPMC Hillman Cancer Center (US)

Publication Details

Journal: Circulation Genomic and Precision Medicine
Published: 2025-09-18
DOI: https://doi.org/10.1161/circgen.124.005061
Citations: 5
Primary Topic: Vascular Anomalies and Treatments
Type: article
Field-Weighted Citation Impact: 8.13

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article

Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in ENG and ACVRL1

Anthony R. Anzell, Jenna C. Carlson, Beth L. Roman, Brenda Diergaarde et al.

Sep 18, 2025

5 citations

Circulation Genomic and Precision Medicine

Vascular Anomalies and Treatments

8.13

article

Hereditary Hemorrhagic Telangiectasia Prevalence Estimates Calculated From GnomAD Allele Frequencies of Predicted Pathogenic Variants in ENG and ACVRL1

Anthony R. Anzell, Jenna C. Carlson, Beth L. Roman, Brenda Diergaarde, Charles C. White

September 18, 2025article en

5 citations

Abstract

Our results support the notion that HHT is underdiagnosed and that HHT prevalence may be above the threshold of a rare disease.

Circulation Genomic and Precision MedicineVol. 18(5)

University of Pittsburgh (US), Department of Health (TW), UPMC Hillman Cancer Center (US)

Openalex Percentile: Top 2%

Vascular Anomalies and Treatments

8.13

DOI Open Access PDF OpenAlex

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