Associated Papers
Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.
Wang Y et al.
Progress in Retinal and Eye Research, 2025
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
van der Ende S et al.
Investigative Ophthalmology & Visual Science, 2025
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.
Silva NÁ et al.
Bmc Ophthalmology, 2024
Identification of a novel mutation in KIF11 with functional analysis in a cohort of 516 familial patients with exudative vitreoretinopathy.
Wang K et al.
Molecular Vision, 2021
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.
Karjosukarso DW et al.
European Journal of Human Genetics : Ejhg, 2018
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.
Li JK et al.
Scientific Reports, 2016
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Robitaille JM et al.
Jama Ophthalmology, 2014
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