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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

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