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Article

Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.

Italian journal of pediatrics - 29 Feb 2016

Salerno Teresa, Peca Donatella, Menchini Laura, Schiavino Alessandra, Boldrini Renata, Esposito Fulvio, Danhaive Olivier, Cutrera Renato

Abstract excerpt

BACKGROUND: Monoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported. CASE PRESENTATION: We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Pulmonary Surfactant-Associated Protein C

Source

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Identifiers

PMID: 26925580
DOI: 10.1186/s13052-016-0235-x
PMCID: PMC4772310

Genes

SFTPC

Variants

Provenance

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