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The role of exome sequencing in childhood interstitial or diffuse lung disease
BACKGROUND: Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality. We assessed the diagnosti...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9463757/ https://www.ncbi.nlm.nih.gov/pubmed/36085161 http://dx.doi.org/10.1186/s13023-022-02508-1 |