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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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Publicado en:Sci Rep
Autores principales: Li, Jia-Kai, Fei, Ping, Li, Yian, Huang, Qiu-Jing, Zhang, Qi, Zhang, Xiang, Rao, Yu-Qing, Li, Jing, Zhao, Peiquan
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2016
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Acceso en línea: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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