Article
Unexplained neonatal respiratory distress due to congenital surfactant deficiency.
The Journal of pediatrics - 1 Jun 2007
Somaschini Marco, Nogee Lawrence M, Sassi Isabella, Danhaive Olivier, Presi Silvia, Boldrini Renata, Montrasio Cristina, Ferrari Maurizio, Wert Susan E, Carrera Paola
Abstract excerpt
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).
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