Associated Papers
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
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Szafranski P et al.
American Journal of Medical Genetics. Part A, 2016
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Kerstjens-Frederikse WS et al.
Journal of Medical Genetics, 2013
Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins.
Sen A et al.
Molecular Genetics and Genomics : Mgg, 2010
T-box genes and congenital heart/limb malformations.
Isphording D et al.
Clinical Genetics, 2004
Mutations in the human TBX4 gene cause small patella syndrome.
Bongers EM et al.
American Journal of Human Genetics, 2004
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