Clinical and molecular genetic features of hereditary pulmonary arterial hypertension.

Abstract excerpt

Pulmonary arterial hypertension (PAH) is a rare disorder that may be hereditary (HPAH), idiopathic (IPAH), or associated with either drug-toxin exposures or other medical conditions. Familial cases have long been recognised and are usually due to mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2), or, much less commonly, two other members of the transforming growth factor-β superfamily,...

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• ENG gene
• Bone Morphogenetic Protein Receptors, Type II
• Familial Primary Pulmonary Hypertension
• Genetic Predisposition to Disease
• Genetic Testing