A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
作者信息
Kaname Tadashi, Yanagi Kumiko
机构信息
Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
出版信息
J Hum Genet. 2017 Aug;62(8):739-740. doi: 10.1038/jhg.2017.58. Epub 2017 Jun 1.
Abstract
摘要
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A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.关于ANKRD11变异导致与KBG综合征和类科芬-西里综合征相关的可变临床特征的评论。
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本文引用的文献
1
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.ANKRD11 变异导致与 KBG 综合征和 Coffin-Siris 样综合征相关的可变临床特征。
J Hum Genet. 2017 Aug;62(8):741-746. doi: 10.1038/jhg.2017.24. Epub 2017 Mar 2.
2
RASopathies: Presentation at the Genome, Interactome, and Phenome Levels.RAS 病：在基因组、相互作用组和表型组水平上的表现
Mol Syndromol. 2016 May;7(2):72-9. doi: 10.1159/000445733. Epub 2016 Apr 21.
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Recent advances in RASopathies.RAS 病的最新进展。
J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8.
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Modifier genes and their effect on Duchenne muscular dystrophy.修饰基因及其对杜氏肌营养不良症的影响。
Curr Opin Neurol. 2015 Oct;28(5):528-34. doi: 10.1097/WCO.0000000000000240.
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Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders.外显子组和基因组测序：单基因疾病发现和诊断的革命。
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A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.纯合性无义CEP250突变与杂合性无义C2orf71突变相结合与非典型Usher综合征相关。
J Med Genet. 2014 Jul;51(7):460-9. doi: 10.1136/jmedgenet-2014-102287. Epub 2014 Apr 29.
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Nat Genet. 2012 Dec;44(12):1291-2. doi: 10.1038/ng.2479.
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Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.下一代测序：外显子组测序在孟德尔疾病特征分析中的影响。
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