Article
Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2020
Fujinami Kaoru, Oishi Akio, Yang Lizhu, Arno Gavin, Pontikos Nikolas, Yoshitake Kazutoshi, Fujinami-Yokokawa Yu, Liu Xiao, Hayashi Takaaki, Katagiri Satoshi, Mizobuchi Kei, Mizota Atsushi, Shinoda Kei, Nakamura Natsuko, Kurihara Toshihide, Tsubota Kazuo, Miyake Yozo, Iwata Takeshi, Tsujikawa Akitaka, Tsunoda Kazushige
Abstract excerpt
Variants in the PROM1 gene are associated with cone (-rod) dystrophy, macular dystrophy, and other phenotypes. We describe the clinical and genetic characteristics of 10 patients from eight Japanese families with PROM1-associated retinal disorder (PROM1-RD) in a nationwide cohort. A literature review of PROM1-RD in the Japanese population was also performed. The median age at onset/examination of 10 patients was...
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