A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes

Abstract Background Surfactant dysfunction disorders are a group of rare diseases that lead to childhood interstitial lung diseases (ILD). SFTPC, ABCA3, and NKX2-1 are the three genetic forms of this condition. The differences in clinical presentations and prognostic outcomes across these genotypes...

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Autors principals:	Xiaolei Tang, Shunying Zhao, Yuelin Shen, Yu Tang, Xingfeng Yao, Hui Xu, Hui Liu, Xiaoyan Zhang, Xiao Li, Yanqiong Wang, Haiming Yang
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2025-08-01
Col·lecció:	Italian Journal of Pediatrics
Matèries:	Interstitial lung diseases Surfactant dysfunction SFTPC ABCA3 NKX2-1 Childhood
Accés en línia:	https://doi.org/10.1186/s13052-025-02110-8
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