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Updated: Feb 2, 2026

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Neonatal Lung Disease Associated with TBX4 Mutations

Kristen Suhrie1, Nathan M Pajor2, Shawn K Ahlfeld1

  • 1Perinatal Institute, Division of Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.

The Journal of Pediatrics
|November 11, 2018
PubMed
Summary

Heterozygous TBX4 mutations cause neonatal respiratory failure in infants. Clinical presentations, pathology, and outcomes vary widely, impacting diagnosis and patient management.

Keywords:
ABCA3T-box transcription factorTBX2TBX4congenital alveolar dysplasiacongenital anomalylung developmentpulmonary hypoplasia

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