Associated Papers
KIF11-related MCLMR presenting with FEVR-like retinopathy: first report in an Indian child.
Das A et al.
Ophthalmic Genetics, 2026
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
40739497 (PubMed )
Supplement: 12886_2025_4261_MOESM1_ESM.xls › Supplement_1
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
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
Select a paper to view details