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
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family.
Chen J et al.
Bmc Medical Genetics, 2019
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
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
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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