Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4.
Ignacio Hernandez-GonzalezJair TenorioJulian Palomino-DozaAmaya Martinez MeñacaRafael Morales RuizMauro Lago-DocampoMaría Valverde GomezJavier Gomez RomanAna Belén Enguita VallsCarmen Perez-OlivaresDiana ValverdeJoan Gil CarbonellElvira Garrido-Lestache Rodríguez-MonteMaria Jesus Del CerroPablo LapunzinaPilar Escribano-SubiasPublished in: PloS one (2020)
Genetic testing is now essential for a correct diagnosis work-up in Pulmonary Arterial Hypertension. TBX4-associated Pulmonary Arterial Hypertension has marked clinical heterogeneity. In this regard, a genetic study is extremely useful to obtain an accurate diagnosis and provide appropriate management.