Unexplained Neonatal Respiratory Distress Due to Congenital Surfactant Deficiency

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

Research output: Contribution to journalArticlepeer-review


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).

Original languageEnglish
JournalJournal of Pediatrics
Issue number6
Publication statusPublished - Jun 2007

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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