Novel ABCA3 mutations as a cause of respiratory distress in a term newborn
Keywords: RDS; respiratory distress syndrome; LB; lamellar bodies; SFTPB; surfactant protein-B; SFTPC; surfactant protein-C; NKX2-1; thyroid transcription factor-1; ABCA3; ATP-binding cassette A3 transporter; CT; computed tomography; BAL; broncho-alveolar lavage; D