Neonatal Lung Disease Associated with TBX4 Mutations.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 30413314.
- Also identified by DOI 10.1016/j.jpeds.2018.10.018 and PMC identifier 6389379.
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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.
Medical subject headings
- Mutation
- Respiratory Insufficiency
- T-Box Domain Proteins