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Article

Identifying variation in models of care for the genomic-based diagnosis of inherited retinal dystrophies in the United Kingdom.

Eye (London, England) - 1 Jul 2016

Eden M, Payne K, Jones C, Wright S J, Hall G, McAllister M, Black G

Abstract excerpt

PurposeAdvances in genomic technologies are prompting a realignment of diagnostic and management pathways for rare inherited disease. New models of care are being developed as genomic-based diagnostic testing becomes increasingly relevant within more and more aspects of medicine. This study describes current care models for the provision of a genomic-based diagnosis for patients with inherited retinal dystrophy...

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Identifiers

PMID: 27080487
DOI: 10.1038/eye.2016.74
PMCID: PMC4941073

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