Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

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...

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Vydáno v:Sci Rep
Hlavní autoři: Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Müller, Philipp L., Herrmann, Philipp, Betz, Christian, Zahnleiter, Diana, Neuhaus, Christine, Lenzner, Steffen, Holz, Frank G., Mangold, Elisabeth, Bolz, Hanno J., Charbel Issa, Peter
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2018
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5859282/
https://ncbi.nlm.nih.gov/pubmed/29555955
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-22096-0
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