KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

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...

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Podrobná bibliografie
Vydáno v:Hum Genome Var
Hlavní autoři: Malvezzi, João VM, H Magalhaes, Ingrid, S Costa, Silvia, Otto, Paulo A, Rosenberg, Carla, Bertola, Debora R, LM Fernandes, Walter, Vianna-Morgante, Angela M, Krepischi, Ana CV
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2018
Témata:
Data Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6694292/
https://ncbi.nlm.nih.gov/pubmed/31428438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.10
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