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
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1
Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene.
Kondo H et al.
Translational Vision Science & Technology, 2021
Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy.
Li Y et al.
Frontiers in Genetics, 2021
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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