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Article

Coexistence of pulmonary arterial hypertension and straight back syndrome in a patient with a novel BMPR2 variant affecting cytoplasmic tail domain.

European journal of medical research - 1 Apr 2024

Tang Mi, Luo Jun, Liu Qingqing, Song Jie

Abstract excerpt

BACKGROUND: Pathologic variants in the bone morphogenetic protein receptor-2 (BMPR2) gene cause a pulmonary arterial hypertension phenotype in an autosomal-dominant pattern with incomplete penetrance. Straight back syndrome is one of the causes of pseudo-heart diseases. To date, no cases of idiopathic or heritable pulmonary arterial hypertension with straight back syndrome have been reported. CASE PRESENTATION: A...

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Share to Bone Morphogenetic Protein Receptors, Type II
Share to Familial Primary Pulmonary Hypertension

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38561801
DOI: 10.1186/s40001-024-01810-x
PMCID: PMC10983711

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

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