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
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
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
Identification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus.
Zhang X et al.
Scientific Reports, 2014
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
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.
Kaplan Y et al.
The British Journal of Ophthalmology, 2008
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
Zhang B et al.
Molecular Vision, 2007
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
Schorderet DF et al.
Human Mutation, 2007
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