Neonatal Lung Disease Associated with TBX4 Mutations

Kristen Suhrie, Nathan M. Pajor, Shawn K. Ahlfeld, D. Brian Dawson, Kevin R. Dufendach, Joseph A. Kitzmiller, Daniel Leino, Rachel C. Lombardo, Teresa A. Smolarek, Pamela A. Rathbun, Jeffrey A. Whitsett, Christopher Towe, Kathryn A. Wikenheiser-Brokamp

Research output: Contribution to journalArticle

10 Scopus citations


Variable lung disease was documented in 2 infants with heterozygous TBX4 mutations; their clinical presentations, pathology, and outcomes were distinct. These findings demonstrate that TBX4 gene mutations are associated with neonatal respiratory failure and highlight the wide spectrum of clinicopathological outcomes that have implications for patient diagnosis and management.

Original languageEnglish (US)
Pages (from-to)286-292.e1
JournalJournal of Pediatrics
StatePublished - Mar 2019
Externally publishedYes



  • ABCA3
  • congenital alveolar dysplasia
  • congenital anomaly
  • lung development
  • pulmonary hypoplasia
  • T-box transcription factor
  • TBX2
  • TBX4

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Suhrie, K., Pajor, N. M., Ahlfeld, S. K., Dawson, D. B., Dufendach, K. R., Kitzmiller, J. A., Leino, D., Lombardo, R. C., Smolarek, T. A., Rathbun, P. A., Whitsett, J. A., Towe, C., & Wikenheiser-Brokamp, K. A. (2019). Neonatal Lung Disease Associated with TBX4 Mutations. Journal of Pediatrics, 206, 286-292.e1.