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Article

Neonatal-onset pulmonary alveolar proteinosis is a phenotype associated with poor outcomes in surfactant protein-C disorder.

Early human development - 1 Feb 2024

Honjo Ryota, Cho Kazutoshi, Hashimoto Kahoko, Takeda Kenta, Seto Yoshitaka, Kaneshi Yosuke, Furuse Yuta, Manabe Atsushi

Abstract excerpt

BACKGROUND: Surfactant protein C (SP-C) disorder is a major component of hereditary interstitial lung disease (HILD) among Japanese. The correlation between clinical outcomes and the phenotype/genotype of SP-C disorder has not been evaluated comprehensively. The current study aimed to evaluate the phenotype/genotype correlated with poor outcomes in patients with SP-C disorder. METHODS: Sequencing analysis of...

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Identifiers

PMID: 38199047
DOI: 10.1016/j.earlhumdev.2023.105930

Genes

SFTPC

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