Associated Papers
Insights into KIF11 pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome from a lymphatic perspective.
Ogmen K et al.
Jci Insight, 2025
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
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.
Silva NÁ et al.
Bmc Ophthalmology, 2024
Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene.
Kondo H et al.
Translational Vision Science & Technology, 2021
Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.
Shurygina MF et al.
Investigative Ophthalmology & Visual Science, 2020
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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