Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

Thirty percent of all inherited retinal disease (IRD) is accounted for by conditions with extra-ocular features. This study aimed to establish the genetic diagnostic pick-up rate for IRD patients with one or more extra-ocular features undergoing panel-based screening in a clinical setting. One hundr...

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Detalles Bibliográficos
Autores principales: Jiman, Omamah A., Taylor, Rachel L., Lenassi, Eva, Smith, Jill Clayton, Douzgou, Sofia, Ellingford, Jamie M., Barton, Stephanie, Hardcastle, Claire, Fletcher, Tracy, Campbell, Christopher, Ashworth, Jane, Biswas, Susmito, Ramsden, Simon C., Manson, Forbes D., Black, Graeme C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171123/
https://www.ncbi.nlm.nih.gov/pubmed/31836858
http://dx.doi.org/10.1038/s41431-019-0548-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171123/
https://www.ncbi.nlm.nih.gov/pubmed/31836858
http://dx.doi.org/10.1038/s41431-019-0548-5

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