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

16 Scopus citations

Abstract

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
Volume206
DOIs
StatePublished - Mar 2019

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Neonatal Lung Disease Associated with TBX4 Mutations'. Together they form a unique fingerprint.

  • 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. https://doi.org/10.1016/j.jpeds.2018.10.018