New IPAH Gene Variants Identified in Large Global Study

New IPAH Gene Variants Identified in Large Global Study

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New IPAH Gene Variants Identified in Large Global Study

A study of rare gene variants has identified two new candidates — fibulin 2 (FBLN2) and platelet-derived growth factor D (PDGFD) — that increase risk for adult-onset idiopathic pulmonary arterial hypertension (IPAH). In-depth genetic analyses also predicted that about 15% of IPAH cases in children are caused by de novo variants, which means they are not inherited from the parents. The study, “Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium…

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