Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings

BACKGROUND: Exome sequencing is recommended as a first-line investigation for patients with a developmental delay or intellectual disability. This approach has not been implemented in most resource-constraint settings, including Africa, due to the high cost of implementation. Instead, patients have...

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Detalles Bibliográficos
Autores principales: Wiener, Emma K., Buchanan, James, Krause, Amanda, Lombard, Zané
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091645/
https://www.ncbi.nlm.nih.gov/pubmed/37046271
http://dx.doi.org/10.1186/s13023-023-02642-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091645/
https://www.ncbi.nlm.nih.gov/pubmed/37046271
http://dx.doi.org/10.1186/s13023-023-02642-4

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