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
Autores principales: Li, Jia-Kai, Fei, Ping, Li, Yian, Huang, Qiu-Jing, Zhang, Qi, Zhang, Xiang, Rao, Yu-Qing, Li, Jing, Zhao, Peiquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4876406/
https://www.ncbi.nlm.nih.gov/pubmed/27212378
http://dx.doi.org/10.1038/srep26564

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