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Addressing the routine failure to clinically identify monogenic cases of common disease

Changes in medical practice are needed to improve the diagnosis of monogenic forms of selected common diseases. This article seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical management of patients with specific monogenic forms o...

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Detalles Bibliográficos
Autores principales: Murray, Michael F., Khoury, Muin J., Abul-Husn, Noura S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175445/
https://www.ncbi.nlm.nih.gov/pubmed/35672798
http://dx.doi.org/10.1186/s13073-022-01062-6