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Article

Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension.

Cells - 15 Nov 2021

Gallego Natalia, Cruz-Utrilla Alejandro, Guillén Inmaculada, Bonora Amparo Moya, Ochoa Nuria, Arias Pedro, Lapunzina Pablo, Escribano-Subias Pilar, Nevado Julián, Tenorio-Castaño Jair

Abstract excerpt

Pulmonary arterial hypertension (PAH) sometimes co-exists with hereditary hemorrhagic telangiectasia (HHT). Despite being clinically diagnosable according to Curaçao criteria, HHT can be difficult to diagnose due to its clinically heterogenicity and highly overlapping with PAH. Genetic analysis of the associated genes ACVRL1, ENG, SMAD4 and GDF2 can help to confirm or discard the presumptive diagnosis. As part of...

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Identifiers

PMID: 34831401
DOI: 10.3390/cells10113178
PMCID: PMC8624726

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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