Associated Papers
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
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Schlögel MJ et al.
Orphanet Journal of Rare Diseases, 2015
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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