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
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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