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Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis

KIF11 gene mutations cause a rare autosomal dominant inheritable disease called microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR). Recently, such mutations were also found to be associated with familial exudative vitreoretinopathy (FEVR). Here, we report 7 nov...

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Detalles Bibliográficos
Publicado en:Sci Rep
Main Authors: Li, Jia-Kai, Fei, Ping, Li, Yian, Huang, Qiu-Jing, Zhang, Qi, Zhang, Xiang, Rao, Yu-Qing, Li, Jing, Zhao, Peiquan
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4876406/
https://ncbi.nlm.nih.gov/pubmed/27212378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep26564
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