Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 33359301.
- Also identified by DOI 10.1016/j.jpeds.2020.12.055 and PMC identifier 8031471.
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Abstract
ABCA3 deficiency is a rare cause of neonatal respiratory failure. Biallelic complete loss of function variants lead to neonatal demise without lung transplantation, but children with partial function variants have variable outcomes. The favorable clinical course of 3 such infants presenting with respiratory distress at birth is described.
Medical subject headings
- ATP-Binding Cassette Transporters
- Respiratory Distress Syndrome, Newborn