Associated Papers
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation associated with KIF11 pathogenic variant: case report and genotype-phenotype correlation analysis.
Peng J et al.
Bmc Ophthalmology, 2025
40739497 (PubMed )
Supplement: 12886_2025_4261_MOESM1_ESM.xls › Supplement_1
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
Wang C et al.
Bmc Genomics, 2023
37501076 (PubMed )
Supplement: 12864_2023_9505_MOESM1_ESM.xlsx › Summary
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada A et al.
Brain & Development, 2019
Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
Balikova I et al.
Acta Ophthalmologica, 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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Jones GE et al.
European Journal of Human Genetics : Ejhg, 2014
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P et al.
American Journal of Human Genetics, 2012
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