Associated Papers
Clinical characteristics of SFTPC gene mutations in children: a single-center experience.
Yang T et al.
Italian Journal of Pediatrics, 2025
40890883 (PubMed )
Supplement: 13052_2025_2101_MOESM3_ESM.doc
Severe Neonatal Interstitial Lung Disease Caused by a Rare Surfactant Protein C Mutation.
Terpe F et al.
Pediatrics, 2023
Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants.
Balinotti JE et al.
Pediatric Pulmonology, 2023
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease.
Hong D et al.
Pediatric Research, 2017
A novel surfactant protein C L55F mutation associated with interstitial lung disease alters subcellular localization of proSP-C in A549 cells.
Liu T et al.
Pediatric Research, 2016
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