The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

BACKGROUND: Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such...

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Detalles Bibliográficos
Autores principales: Black, Graeme C., Sergouniotis, Panagiotis, Sodi, Andrea, Leroy, Bart P., Van Cauwenbergh, Caroline, Liskova, Petra, Grønskov, Karen, Klett, Artur, Kohl, Susanne, Taurina, Gita, Sukys, Marius, Haer-Wigman, Lonneke, Nowomiejska, Katarzyna, Marques, João Pedro, Leroux, Dorothée, Cremers, Frans P. M., De Baere, Elfride, Dollfus, Hélène
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Position Statement
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7980559/
https://www.ncbi.nlm.nih.gov/pubmed/33743793
http://dx.doi.org/10.1186/s13023-021-01756-x

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