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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Foilsithe in:Orphanet J Rare Dis
Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2021
Ábhair:
Position Statement
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7980559/
https://ncbi.nlm.nih.gov/pubmed/33743793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01756-x
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