Implementing pulmonary arterial hypertension screening among TBX4 mutation carriers: a timely endeavour

ERJ Open Res. 2025 Mar 31;11(2):00760-2024. doi: 10.1183/23120541.00760-2024. eCollection 2025 Mar.

Abstract

Systematic genetic counselling for TBX4 carriers and their relatives enables screening for small patella syndrome and early diagnosis of pulmonary arterial hypertension https://bit.ly/4eKaPzY.