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...

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Detalles Bibliográficos
Autores principales: Temple, Suzanna E. L., Ho, Gladys, Bennetts, Bruce, Boggs, Kirsten, Vidic, Nada, Mowat, David, Christodoulou, John, Schultz, André, Gayagay, Thet, Roscioli, Tony, Zhu, Ying, Lunke, Sebastian, Armstrong, David, Harrison, Joanne, Kapur, Nitin, McDonald, Tim, Selvadurai, Hiran, Tai, Andrew, Stark, Zornitza, Jaffe, Adam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
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

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