Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

Genomic testing is becoming routine for diagnosing rare childhood genetic disease. Evidence underlying sustainable implementation is limited, focusing on short-term endpoints such as diagnostic yield, unable to fully characterize patient and family valued outcomes. Although genomic testing is becomi...

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Detalles Bibliográficos
Autores principales: Pollard, Samantha, Weymann, Deirdre, Dunne, Jessica, Mayanloo, Fatemeh, Buckell, John, Buchanan, James, Wordsworth, Sarah, Friedman, Jan M., Stockler-Ipsiroglu, Sylvia, Dragojlovic, Nick, Elliott, Alison M., Harrison, Mark, Lynd, Larry D., Regier, Dean A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484431/
https://www.ncbi.nlm.nih.gov/pubmed/33903739
http://dx.doi.org/10.1038/s41431-021-00882-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484431/
https://www.ncbi.nlm.nih.gov/pubmed/33903739
http://dx.doi.org/10.1038/s41431-021-00882-1

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