Molecular genetics of pulmonary hypertension in children.

Abstract excerpt

Until recently, the molecular aetiology of paediatric pulmonary hypertension (PH) was relatively poorly understood. While the TGF-β/BMP pathway was recognised as central to disease progression, genetic analyses in children were largely confined to targeted screening of risk genes in small cohorts, with clinical management extrapolated from adult data. In recent years, next-generation sequencing has highlighted...

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