Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dyst...
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic...
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Full title
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5859282
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5859282
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-018-22096-0
