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
Neonatal-onset pulmonary alveolar proteinosis is a phenotype associated with poor outcomes in surfactant protein-C disorder.
Honjo R et al.
Early Human Development, 2024
Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype.
Delestrain C et al.
European Journal of Human Genetics : Ejhg, 2017
A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.
Litao MK et al.
Pediatric Pulmonology, 2017
Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred.
Ono S et al.
The European Respiratory Journal, 2011
New surfactant protein C gene mutations associated with diffuse lung disease.
Guillot L et al.
Journal of Medical Genetics, 2009
Genetics of fibrosing lung diseases.
Grutters JC et al.
The European Respiratory Journal, 2005
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.
Tredano M et al.
American Journal of Medical Genetics. Part A, 2004
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.
Thomas AQ et al.
American Journal of Respiratory and Critical Care Medicine, 2002
Genetic disorders of surfactant dysfunction.
Wert SE et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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