Journal
JOURNAL OF PEDIATRICS
Volume 206, Issue -, Pages 286-+Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2018.10.018
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Funding
- National Institutes of Health/National Heart, Lung and Blood Institute [U01 HL122642, U01 HL134745]
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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.
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