Open AccessGenotype and Phenotype Spectrum ofFRMD7-Associated Infantile Nystagmus Syndrome
Author(s) -
JaeHwan Choi,
Jae Ho Jung,
Eun Hye Oh,
JinHong Shin,
Hyang-Sook Kim,
Je Hyun Seo,
SeoYoung Choi,
Min-Ji Kim,
Hee Young Choi,
Changwook Lee,
KwangDong Choi
Publication year - 2018
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.18-24207
Subject(s) - missense mutation , nystagmus , proband , exon , mutation , jerk , genetics , genotype , medicine , audiology , biology , gene , physics , classical mechanics , acceleration
We investigate the genotype and phenotype spectrum of FRMD7-associated infantile nystagmus syndrome in Korean probands.
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