Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.

doi:10.1002/ajmg.a.62193

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Article

Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.

American journal of medical genetics. Part A - 1 Jul 2021

Latif Muhammad A, Sobreira Nara Lygia D, Guthrie Kelsey S, Motaghi Mina, Robinson Gina M, Shafaat Omid, Gong Anna J, Weiss Clifford R

Abstract excerpt

In this retrospective single-center study, we evaluated whether/how pathogenic/likely pathogenic variants of three hereditary hemorrhagic telangiectasia (HHT)-associated genes (ENG, ACVRL1, and SMAD4) are associated with specific clinical presentations of HHT. We also characterized the morphological features of pulmonary arteriovenous malformations (AVMs) in patients with these variants. Pathogenic or likely...

Topics

Activin Receptors, Type II
Adult
Arteriovenous Fistula
Endoglin
Female
Genetic Predisposition to Disease
Growth Differentiation Factor 2
Humans
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pulmonary Artery

Pulmonary Veins

Retrospective Studies

Smad4 Protein

Telangiectasia, Hereditary Hemorrhagic

p120 GTPase Activating Protein

Source

Open in PubMed

Identifiers

PMID: 33768677
DOI: 10.1002/ajmg.a.62193

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