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KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

29 Mar 2018

Abstract excerpt

KIF11 mutations are known to cause autosomal dominant microcephaly-lymphedema-chorioretinopathy dysplasia syndrome, associated or not with intellectual disability. We report a father and two children presenting microcephaly, chorioretinopathy and mild intellectual disability associated with a 209-kb microdeletion at 10q23.33. This microdeletion encompasses the entire KIF11 gene. In addition to point mutations,...

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PMID: 31428438
DOI: 10.1038/hgv.2018.10

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