Phenotype characterisation ofTBX4mutation and deletion carriers with neonatal and paediatric pulmonary hypertension

Abstract excerpt

Rare variants in the T-box transcription factor 4 gene (TBX4) have recently been recognised as an emerging cause of paediatric pulmonary hypertension (PH). Their pathophysiology and contribution to persistent pulmonary hypertension in neonates (PPHN) are unknown. We sought to define the spectrum of clinical manifestations and histopathology associated withTBX4variants in neonates and children with PH. We assessed...

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