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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072995/
https://www.ncbi.nlm.nih.gov/pubmed/32079136
http://dx.doi.org/10.3390/ijms21041331

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072995/
https://www.ncbi.nlm.nih.gov/pubmed/32079136
http://dx.doi.org/10.3390/ijms21041331

Ejemplares similares