A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy
Abstract
Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung disease, and outcomes. We report a novel mutation in SFTPC [c.435G->A, p.(Gln145)] that was associated with onset of symptoms in early infancy, progressive respiratory failure with need for prolonged mechanical ventilatory support, and eventual lung transplant at 1 year of...
Paper Details
Title
A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy
Published Date
Jun 30, 2016
Journal
Volume
52
Issue
1
Pages
57 - 68
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