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Case Reports
. 2010 Aug;188(4):349-52.
doi: 10.1007/s00408-010-9242-7. Epub 2010 May 23.

A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian

Shilpa Johri  1 , Gan H Dunnington, Cindy L Vnencak-Jones
Affiliations
Case Reports

A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian

Shilpa Johri et al. Lung. 2010 Aug.

Abstract

We describe the case of an 83-year-old man with a family history of pulmonary hypertension (PH) who presented with severe pulmonary arterial hypertension (PAH) and later tested positive for a novel bone morphogenetic protein receptor 2 (BMPR2) gene mutation. To our knowledge, this may be the oldest reported patient with PAH in whom a BMPR2 mutation was initially identified.

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Figures

Fig. 1
Fig. 1
Sequencing results demonstrating mutation c.241insT in DNA and mRNA
See this image and copyright information in PMC

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