RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association

Fujinami, K; Liu, X; Ueno, S; Mizota, A; Shinoda, K; Kuniyoshi, K; Fujinami-Yokokawa, Y; Yang, LZ; Arno, G; Pontikos, N; Kameya, S; Kominami, T; Terasaki, H; Sakuramoto, H; Nakamura, N; Kurihara, T; Tsubota, K; Miyake, Y; Yoshiake, K; Iwata, T; Tsunoda, K

Fujinami, K (corresponding author), Natl Hosp Org Tokyo Med Ctr, Lab Visual Physiol, Div Vis Res, Natl Inst Sensory Organs,Meguro Ku, 2-5-1 Higashigaoka, Tokyo, Japan.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2020; 184 (3): 675

Abstract

The retinitis pigmentosa 2 (RP2) gene is one of the causative genes for X-linked inherited retinal disorder. We characterized the clinical/genetic fea......

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