Ontology highlight
ABSTRACT:
SUBMITTER: Li JK
PROVIDER: S-EPMC4876406 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Li Jia-Kai JK Fei Ping P Li Yian Y Huang Qiu-Jing QJ Zhang Qi Q Zhang Xiang X Rao Yu-Qing YQ Li Jing J Zhao Peiquan P
Scientific reports 20160523
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 novel KIF11 mutations identified by targeted gene capture in a cohort of 142 probands with FEVR who were diagnosed in our clinic between March 2015 and November 2015. These mutations were: p.L171V, c.790 ...[more]