Clinical utility gene card for FRMD7-related infantile nystagmus.
作者信息
Dawar Basu, Kuht Helen J, Han Jinu, Maconachie Gail D E, Thomas Mervyn G
机构信息
Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, RKCSB, PO Box 65, Leicester, LE2 7LX, UK.
Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
出版信息
Eur J Hum Genet. 2021 Oct;29(10):1584-1588. doi: 10.1038/s41431-021-00826-9. Epub 2021 Feb 25.
Abstract
摘要
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2
Abnormal retinal development associated with FRMD7 mutations.与FRMD7基因突变相关的视网膜异常发育。
Hum Mol Genet. 2014 Aug 1;23(15):4086-93. doi: 10.1093/hmg/ddu122. Epub 2014 Mar 31.
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A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.FRMD7 与 CASK 之间的新相互作用：在特发性婴儿性眼球震颤中因果关系的证据。
Hum Mol Genet. 2013 May 15;22(10):2105-18. doi: 10.1093/hmg/ddt060. Epub 2013 Feb 12.
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Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.先天性 X 连锁眼球震颤的同一家系中存在 FRMD7 基因的新型纯合子、杂合子和半合子突变。
Eur J Hum Genet. 2012 Oct;20(10):1032-6. doi: 10.1038/ejhg.2012.60. Epub 2012 Apr 11.
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Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.伴有和不伴有FRMD7基因突变的特发性婴儿型眼球震颤的表型特征
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