Genetic abnormalities of pulmonary surfactant were identified by DNA sequence analysis in 14 (12 full-term, 2 preterm) of 17 newborn infants with fatal respiratory distress of unknown etiology. Deficiency of adenosine triphosphate-binding cassette protein, member A3 (n = 12) was a more frequent cause of this phenotype than deficiency of surfactant protein B (n = 2).
Affiliations
Bambino Gesù Children’s Hospital, RomeDepartment of Medical and Surgical Neonatology
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Somaschini, M., Nogee, L. M., Sassi, I., Danhaive, O., Presi, S., Boldrini, R., Montrasio, C., Ferrari, M., Wert, S. E., & Carrera, P. (2007). Unexplained neonatal respiratory distress due to congenital surfactant deficiency. The Journal of Pediatrics, 150(6), 649-653. https://doi.org/10.1016/j.jpeds.2007.03.008 (Original work published 2007)