A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

Author:

Chen Junjue,Wei Yan,Tian Linlu,Kang XiaoliORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Ehrt O. Infantile and acquired nystagmus in childhood. Eur J Paediatr Neurol. 2012;16(6):567–72.

2. Richards MD, Wong A. Infantile nystagmus syndrome: clinical characteristics, current theories of pathogenesis, diagnosis, and management. Can J Ophthalmol. 2015;50(6):400–8.

3. Penix K, Swanson MW, DeCarlo DK. Nystagmus in pediatric patients: interventions and patient-focused perspectives. Clinical ophthalmology (Auckland NZ). 2015;9:1527–36.

4. Liu Z, Mao S, Pu J, Ding Y, Zhang B, Ding M. A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family. Mol Vis. 2013;19:1834–40.

5. Zhang Q, Xiao X, Li S, Guo X. FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. Mol Vis. 2007;13:1375–8.

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