Associated Papers
The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.
Szafranski P et al.
American Journal of Medical Genetics. Part A, 2025
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
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Prapa M et al.
American Journal of Respiratory and Critical Care Medicine, 2022
Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome.
Li P et al.
International Journal of Molecular Sciences, 2022
Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.
German K et al.
American Journal of Medical Genetics. Part A, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Karolak JA et al.
American Journal of Human Genetics, 2019
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Szafranski P et al.
American Journal of Medical Genetics. Part A, 2016
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