Molecular diagnostic challenges for non‐retinal developmental eye disorders in the United Kingdom

Overall, approximately one‐quarter of patients with genetic eye diseases will receive a molecular diagnosis. Patients with developmental eye disorders face a number of diagnostic challenges including phenotypic heterogeneity with significant asymmetry, coexisting ocular and systemic disease, limited...

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Detalles Bibliográficos
Autores principales: Jackson, Daniel, Malka, Samantha, Harding, Philippa, Palma, Juliana, Dunbar, Hannah, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432170/
https://www.ncbi.nlm.nih.gov/pubmed/32830442
http://dx.doi.org/10.1002/ajmg.c.31837

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432170/
https://www.ncbi.nlm.nih.gov/pubmed/32830442
http://dx.doi.org/10.1002/ajmg.c.31837

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