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Article

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.

Pediatric pulmonology - 1 Jan 2017

Litao Melissa Kaori Silva, Hayes Don, Chiwane Saurabh, Nogee Lawrence M, Kurland Geoffrey, Guglani Lokesh

Abstract excerpt

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...

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Source

Identifiers

PMID: 27362365
DOI: 10.1002/ppul.23493

Genes

SFTPC

Provenance

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