Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

BACKGROUND: Resources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of new disease genes, but are currently difficult to access by clinical providers. While these resources do contribute to diagnoses in many case...

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Detalles Bibliográficos
Autores principales: Cope, Heidi, Spillmann, Rebecca, Rosenfeld, Jill A., Brokamp, Elly, Signer, Rebecca, Schoch, Kelly, Kelley, Emily G., Sullivan, Jennifer A., Macnamara, Ellen, Lincoln, Sharyn, Golden‐Grant, Katie, Orengo, James P., Clark, Gary, Burrage, Lindsay C., Posey, Jennifer E., Punetha, Jaya, Robertson, Amy, Cogan, Joy, Phillips, John A., Martinez‐Agosto, Julian, Shashi, Vandana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549585/
https://www.ncbi.nlm.nih.gov/pubmed/32730690
http://dx.doi.org/10.1002/mgg3.1397

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549585/
https://www.ncbi.nlm.nih.gov/pubmed/32730690
http://dx.doi.org/10.1002/mgg3.1397

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