KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
Human Genome Variation, ISSN: 2054-345X, Vol: 5, Issue: 1, Page: 18010
2018
- 15Citations
- 23Captures
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Metrics Details
- Citations15
- Citation Indexes15
- 15
- CrossRef7
- Captures23
- Readers23
- 23
Article Description
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, KIF11 haploinsufficiency due to a deletion is causally associated with autosomal dominant microcephaly, chorioretinopathy and mild intellectual disability.
Bibliographic Details
Springer Science and Business Media LLC
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