A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

PURPOSE: To describe the clinical and electrophysiological features of adult-onset macular dystrophy, due to novel combinations of CDHR1 alleles, and compare the associated phenotypes with previous reports. METHODS: The clinical records of patients with macular dystrophy and biallelic variants in CD...

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Detalles Bibliográficos
Autores principales: Ba-Abbad, Rola, Robson, Anthony G., Mahroo, Omar A., Wright, Genevieve, Schiff, Elena, Duignan, Emma S., Michaelides, Michel, Arno, Gavin, Webster, Andrew R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8182786/
https://www.ncbi.nlm.nih.gov/pubmed/32681094
http://dx.doi.org/10.1038/s41433-020-1045-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8182786/
https://www.ncbi.nlm.nih.gov/pubmed/32681094
http://dx.doi.org/10.1038/s41433-020-1045-3

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