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.
- congenital alveolar dysplasia
- congenital anomaly
- lung development
- pulmonary hypoplasia
- T-box transcription factor
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health