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Article

Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia.

Archives of disease in childhood - 1 Jul 2009

Smoot L B, Obler D, McElhinney D B, Boardman K, Wu B-L, Lip V, Mullen M P

Abstract excerpt

BACKGROUND: Pulmonary arterial hypertension (PAH) has been linked to mutations in genes encoding two members of the transforming growth factor-beta family, BMPR2 and ALK1, the latter of which is also associated with hereditary haemorrhagic telangiectasia (HHT). Relatively little is known about th...

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Share to Activin Receptors, Type II
Share to Adolescent
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

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Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 19357124
DOI: 10.1136/adc.2007.133082

Genes

PAH
BMPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19357124-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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