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

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

Abstract 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...

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Bibliographic Details
Main Authors: Mi Tang, Jun Luo, Qingqing Liu, Jie Song
Format: Article
Language:English
Published: BMC 2024-04-01
Series:European Journal of Medical Research
Subjects:
Pulmonary arterial hypertension
Straight back syndrome
BMPR2
Genetic variation
Cytoplasmic tail
Online Access:https://doi.org/10.1186/s40001-024-01810-x

Internet

https://doi.org/10.1186/s40001-024-01810-x

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