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

ConclusionsThis is the first report of different straight back characteristics in heritable pulmonary arterial hypertension with a novel germlineBMPR2 variant. This finding may provide a new perspective on the variable penetrance of the pulmonary arterial hypertension phenotype.
Source: European Journal of Medical Research - Category: Research Source Type: research