Associated Papers
Genetic Landscape and Clinical Characterization of FRMD7-Related Infantile Nystagmus Based on Large In-House Datasets and Literature Review.
Liu S et al.
Investigative Ophthalmology & Visual Science, 2026
41532703 (PubMed )
Supplement: iovs-67-1-30_s006.xlsx › S1
X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.
Liu F et al.
Frontiers in Ophthalmology, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.
Wang XF et al.
Frontiers in Cell and Developmental Biology, 2021
33732697 (PubMed )
Supplement: Table_1.XLSX › Sheet1
A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.
Wu S et al.
Journal of Molecular Neuroscience : Mn, 2019
Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations.
Bai D et al.
Science China. Life Sciences, 2017
Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity.
Yonehara K et al.
Neuron, 2016
26711119 (PubMed )
Supplement: mmc1.pdf
Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.
Song FW et al.
Journal of Zhejiang University. Science. B, 2013
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.
Watkins RJ et al.
Human Molecular Genetics, 2013
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
Radhakrishna U et al.
European Journal of Human Genetics : Ejhg, 2012
The Role of FRMD7 in Idiopathic Infantile Nystagmus.
Watkins RJ et al.
Journal of Ophthalmology, 2012
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus.
He X et al.
Genetic Testing, 2008
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
He X et al.
Molecular Vision, 2008
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.
Zhang Q et al.
Molecular Vision, 2007
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