Article
Heterogeneous phenotype in a family with the FERM domain-containing 7 gene R335X mutation.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Feb 2014
Guo Yi, Song Zhi, Xu Hongbo, Yi Junhui, Zheng Wen, Xiang Hong, Deng Xiong, Lv Hongwei, Gao Kai, Qi Yong, Deng Hao
Abstract excerpt
OBJECTIVE: Infantile nystagmus (IN) is characterized by bilateral involuntary, periodic, and predominantly ocular oscillations. In this article, we describe a mutation screen conducted on a 4-generation family in which 4 patients were affected with X-linked IN (XLIN). DESIGN: Experimental study. PARTICIPANTS: A 4-generation Chinese Han family including 4 symptomatic members with IN and 200 normal male controls....
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