Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings

Am J Respir Crit Care Med. 2014 Mar 15;189(6):750-2. doi: 10.1164/rccm.201312-2225LE.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Female
  • Genetic Markers
  • Humans
  • Infant
  • Infant, Newborn
  • Lung Diseases, Interstitial / complications
  • Lung Diseases, Interstitial / diagnosis
  • Lung Diseases, Interstitial / genetics
  • Male
  • Mutation, Missense*
  • Respiratory Distress Syndrome, Newborn / etiology*
  • Siblings

Substances

  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters
  • Genetic Markers

Supplementary concepts

  • Surfactant Dysfunction