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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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Udgivet i:Eye (Lond)
Main Authors: Ba-Abbad, Rola, Robson, Anthony G., Mahroo, Omar A., Wright, Genevieve, Schiff, Elena, Duignan, Emma S., Michaelides, Michel, Arno, Gavin, Webster, Andrew R.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8182786/
https://ncbi.nlm.nih.gov/pubmed/32681094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41433-020-1045-3
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