Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Inherited retinal disorder (IRD) is a leading cause of blindness, and CRX is one of a number of genes reported to harbour autosomal dominant (AD) and recessive (AR) causative variants. Eighteen patients from 13 families with CRX-associated retinal disorder (CRX-RD) were identified from 730 Japanese...

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Detalles Bibliográficos
Autores principales: Fujinami-Yokokawa, Yu, Fujinami, Kaoru, Kuniyoshi, Kazuki, Hayashi, Takaaki, Ueno, Shinji, Mizota, Atsushi, Shinoda, Kei, Arno, Gavin, Pontikos, Nikolas, Yang, Lizhu, Liu, Xiao, Sakuramoto, Hiroyuki, Katagiri, Satoshi, Mizobuchi, Kei, Kominami, Taro, Terasaki, Hiroko, Nakamura, Natsuko, Kameya, Shuhei, Yoshitake, Kazutoshi, Miyake, Yozo, Kurihara, Toshihide, Tsubota, Kazuo, Miyata, Hiroaki, Iwata, Takeshi, Tsunoda, Kazushige
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7293272/
https://www.ncbi.nlm.nih.gov/pubmed/32533067
http://dx.doi.org/10.1038/s41598-020-65737-z

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