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
Association analysis of the surfactant protein-C gene to childhood asthma.
Nefzi M et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2022
Recurrent diffuse lung disease due to surfactant protein C deficiency.
Kazzi B et al.
Respiratory Medicine Case Reports, 2018
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
Characteristics of disorders associated with genetic mutations of surfactant protein C.
Thouvenin G et al.
Archives of Disease in Childhood, 2010
New surfactant protein C gene mutations associated with diffuse lung disease.
Guillot L et al.
Journal of Medical Genetics, 2009
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