Clinical utility gene card for: Angelman Syndrome.
作者信息
Buiting Karin, Clayton-Smith Jill, Driscoll Daniel J, Gillessen-Kaesbach Gabriele, Kanber Deniz, Schwinger Eberhard, Williams Charles, Horsthemke Bernhard
机构信息
Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Manchester Centre For Genomic Medicine, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.
出版信息
Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4.
Abstract
摘要
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本文引用的文献
1
If not Angelman, what is it? A review of Angelman-like syndromes.若不是天使综合征，那是什么？类天使综合征综述。
Am J Med Genet A. 2014 Apr;164A(4):975-92. doi: 10.1002/ajmg.a.36416.
2
Molecular and Clinical Aspects of Angelman Syndrome.天使综合征的分子与临床研究
Mol Syndromol. 2012 Apr;2(3-5):100-112. doi: 10.1159/000328837. Epub 2011 Jul 28.
3
Prader-Willi syndrome and Angelman syndrome.普拉德-威利综合征与安格曼综合征。
Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):365-76. doi: 10.1002/ajmg.c.30273.
4
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.Prader-Willi 和 Angelman 综合征分子分析实践指南。
BMC Med Genet. 2010 May 11;11:70. doi: 10.1186/1471-2350-11-70.
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