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

B. S. Poterjoy; Y. Vibert; M. Sola-Visner; J. McGowan; G. Visner; L. M. Nogee

doi:10.1038/jp.2009.97

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

B. S. Poterjoy, Y. Vibert, M. Sola-Visner, J. McGowan, G. Visner, L. M. Nogee

School of Medicine

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

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.

Original language	English (US)
Pages (from-to)	151-153
Number of pages	3
Journal	Journal of Perinatology
Volume	30
Issue number	2
DOIs	https://doi.org/10.1038/jp.2009.97
State	Published - Feb 2010

Keywords

ECMO
Gene mutation
Lung transplant
Neonate
Respiratory failure
Surfactant protein C

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Obstetrics and Gynecology

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10.1038/jp.2009.97

Cite this

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

Abstract

Keywords

ASJC Scopus subject areas

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