Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy

DRAM2-associated retinopathy is a rare inherited retinal dystrophy, and its outcome has not been determined. A single retinal involvement by a mutation of the DRAM2 gene is unexplained. We found three unrelated patients with a disease-causing DRAM2 variant in a biallelic state from 1555 Japanese ind...

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Publicat a:Int J Mol Sci
Autors principals: Kuniyoshi, Kazuki, Hayashi, Takaaki, Kameya, Shuhei, Katagiri, Satoshi, Mizobuchi, Kei, Tachibana, Toshiaki, Kubota, Daiki, Sakuramoto, Hiroyuki, Tsunoda, Kazushige, Fujinami, Kaoru, Yoshitake, Kazutoshi, Iwata, Takeshi, Nakano, Tadashi, Kusaka, Shunji
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7072995/
https://ncbi.nlm.nih.gov/pubmed/32079136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21041331
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