Article
Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia.
Archives of disease in childhood - 1 Jul 2009
Smoot L B, Obler D, McElhinney D B, Boardman K, Wu B-L, Lip V, Mullen M P
Abstract excerpt
BACKGROUND: Pulmonary arterial hypertension (PAH) has been linked to mutations in genes encoding two members of the transforming growth factor-beta family, BMPR2 and ALK1, the latter of which is also associated with hereditary haemorrhagic telangiectasia (HHT). Relatively little is known about the genetics of childhood PAH, or about the clinical features of PAH in young patients with an ALK1 mutation. METHODS AND...
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