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
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
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
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