Associated Papers
Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.
Maddaloni C et al.
Italian Journal of Pediatrics, 2024
Molecular Function and Contribution of TBX4 in Development and Disease.
Karolak JA et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.
Yıldız Bölükbaşı E et al.
American Journal of Medical Genetics. Part A, 2022
Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease.
Hernandez-Gonzalez I et al.
Cells, 2021
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Castaño JAT et al.
Genes, 2020
Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.
Thoré P et al.
The European Respiratory Journal, 2020
Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension.
Galambos C et al.
The European Respiratory Journal, 2019
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S et al.
Nature Communications, 2018
29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM2_ESM.xlsx › Suppl._Dataset_2
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Kerstjens-Frederikse WS et al.
Journal of Medical Genetics, 2013
Mutations in the human TBX4 gene cause small patella syndrome.
Bongers EM et al.
American Journal of Human Genetics, 2004
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