Article

First genotype-phenotype study in TBX4 syndrome: gain-of-function mutations causative for lung disease

2022-02-07

Abstract excerpt

<h4>Rationale</h4> Despite the increasing frequency of TBX4 -associated pulmonary arterial hypertension (PAH), genotype-phenotype associations are lacking and may provide important insights. <h4>Methods</h4> We assembled a multi-center cohort of 137 patients harboring monoallelic TBX4 variants and assessed the pathogenicity of missense variation (n = 42) using a novel luciferase reporter assay containing T-BOX bin...

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Literature Corpus work: d59a51c0-f51e-5675-9ce5-d255f3013140
DOI: 10.1101/2022.02.06.22270467

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