Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus
Author:
Publisher
BMJ
Subject
General Medicine
Reference21 articles.
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2. The cerebellum in eye movement control: nystagmus, coordinate frames and disconjugacy;Patel;Eye (Lond),2015
3. The molecular genetics of congenital idiopathic nystagmus;Self;Semin Ophthalmol,2006
4. Combined gaze-angle and vergence variation in infantile nystagmus: two therapies that improve the high-visual-acuity field and methods to measure it;Serra;Invest Ophthalmol Vis Sci,2006
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1. Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications;BMC Medical Genomics;2024-01-26
2. Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmus;Frontiers in Neurology;2023-07-20
3. X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review;Frontiers in Ophthalmology;2023-03-06
4. FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus;Genes;2023-01-29
5. Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology;BMC Medical Genomics;2021-03-29
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