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Article

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.

Human mutation - 1 Apr 2009

Hamid Rizwan, Cogan Joy D, Hedges Lora K, Austin Eric, Phillips John A, Newman John H, Loyd James E

Abstract excerpt

Familial pulmonary arterial hypertension (FPAH) is a progressive, fatal disease caused by mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2). FPAH is inherited as an autosomal dominant trait, and shows incomplete penetrance in that many with BMPR2 mutations do not develop FPAH, suggesting a role for, as yet unidentified, modifier genes in disease penetrance. We hypothesized that variable...

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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: 19206171
DOI: 10.1002/humu.20922
PMCID: PMC2663001

Genes

BMPR2
PAH

Provenance

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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