Diffuse lung disease and pulmonary hypertension related to TBX4 mutation in 5 children

We present five cases of TBX4 related DPLD/PH who survived beyond infancy with different disease progression. Registry-based follow-up is mandatory to understand genotype-phenotype correlation and improve treatment strategies and prognosis for this rare disease.

Source: European Respiratory Journal - November 20, 2019 Category: Respiratory Medicine Authors: Carlens, J., Schwerk, N., Länger, F., Hansen, G., Griese, M., Wetzke, M. Tags: Paediatric bronchology Source Type: research