New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.

Fiammetta Piersigilli1, Donatella Peca2, Francesca Campi1

  • 1Department of Medical and Surgical Neonatology.

Summary

Mutations in the ATP-binding cassette A3 (ABCA3) gene can cause respiratory distress syndrome (RDS) in newborns. This case highlights variable disease severity in twins with the same ABCA3 mutations, suggesting genetic or sex-based influences.

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