Neonatal Lung Disease Associated with TBX4 Mutations

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.

Source: The Journal of Pediatrics - November 7, 2018 Category: Pediatrics Authors: 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 Tags: Clinical and laboratory observations Source Type: research