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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene

Journal of Perinatology volume 30, pages 151–153 (2010)Cite this article

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Abstract

A full-term infant developed respiratory distress immediately after birth, requiring a prolonged course of extra-corporeal membrane oxygenation, followed by high-frequency ventilation. She was unable to wean off mechanical ventilation, required tracheostomy, and ultimately lung transplantation. A novel mutation in the surfactant C protein gene was identified as the cause of her lung disease.

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Authors and Affiliations

  1. Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA, USA

    B S Poterjoy, Y Vibert & J McGowan

  2. Department of Medicine, Children's Hospital Boston, Boston, MA, USA

    M Sola-Visner & G Visner

  3. Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA

    L M Nogee

Authors
  1. B S Poterjoy
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  2. Y Vibert
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  3. M Sola-Visner
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  4. J McGowan
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  5. G Visner
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  6. L M Nogee
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Corresponding author

Correspondence to B S Poterjoy.

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Poterjoy, B., Vibert, Y., Sola-Visner, M. et al. Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene. J Perinatol 30, 151–153 (2010). https://doi.org/10.1038/jp.2009.97

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  • DOI: https://doi.org/10.1038/jp.2009.97

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