| Literature DB >> 23139147 |
Don Hayes1, Chandar Ramanathan, Benjamin T Kopp.
Abstract
We present a patient that is the index case of pulmonary arterial hypertension (PAH) in a child due to the bone morphogenetic protein type II (BMPR2) missense mutation p.K230N, also known as c.690A>T. Missense mutations typically have earlier onset and more severe disease in PAH, so pulmonologists should be aware of this in the evaluation of PAH in children.Entities:
Keywords: BMPR2; c.690A>T; hereditary; p.K230N; pulmonary arterial hypertension
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Year: 2012 PMID： 23139147 DOI： 10.1002/ppul.22716
Source DB: PubMed Journal: Pediatr Pulmonol ISSN： 1099-0496