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Article

An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension.

Clinical genetics - 1 Sept 2026

Aldalaan Abdullah, Nadeef Seba, Khouj Ebtissal, Alahmadi Fayez, Aljamal Bayan, Alturaif Noura, Alharbi Nadeen, Abdulwahab Firdous, Alqahtani Mashael, Alzubi Fatima, Abuyousef Omar, Hashem Mais O, Zaytoun Hamdiah, Alhamoud Hanadi, Alshidi Tarfa, Jaafar Amal, Alabdi Lama, Alkuraya Fowzan S

Abstract excerpt

Growth differentiation factor 2 (GDF2), also known as bone morphogenetic protein-9 (BMP9), is a key member of the transforming growth factor-beta (TGF-β) superfamily, playing a pivotal role in pulmonary vascular regulation and remodeling. Dominant variants in GDF2 are known to cause hereditary hemorrhagic telangiectasia type 5 (HHT5), a condition characterized by telangiectases and arteriovenous malformations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42309173
DOI: 10.1111/cge.70191
PMCID: PMC13432347

Genes

GDF2
PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension.PMID 42309173Read ↗

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