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. 2007 Jun;150(6):649-53, 653.e1.
doi: 10.1016/j.jpeds.2007.03.008.

Unexplained neonatal respiratory distress due to congenital surfactant deficiency

Marco Somaschini  1 , Lawrence M Nogee, Isabella Sassi, Olivier Danhaive, Silvia Presi, Renata Boldrini, Cristina Montrasio, Maurizio Ferrari, Susan E Wert, Paola Carrera
Affiliations

Unexplained neonatal respiratory distress due to congenital surfactant deficiency

Marco Somaschini et al. J Pediatr. 2007 Jun.

Abstract

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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