Angelman syndrome 2005: Updated consensus for diagnostic criteria
Angelman syndrome 2005: Updated consensus for diagnostic criteria
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DOI：
10.1002/ajmg.a.31074
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发表时间：
2006-03-01
影响因子：
2
通讯作者：
Wagstaff, J
中科院分区：
文献类型：
--
作者：
Williams, CA;Beaudet, AL;Wagstaff, J
1995年发表了一项共识声明，旨在总结Angelman综合征（AS）的突出临床特征，以帮助临床医生做出及时准确的诊断。考虑到在过去10年中取得的科学进步，现在有必要审查最初的共识标准的有效性。与最初的共识项目一样，本综述使用的方法是召集一组具有AS经验的科学家和临床医生，制定一份简明的共识声明，并在适当情况下得到科学出版物的支持。希望这份修订后的共识文件将促进对确诊为AS的个体进行进一步的临床研究，并有助于对那些似乎具有AS临床特征但实验室诊断测试正常的人进行评估。(c)2006年威利-利斯。Inc.
In 1995, a consensus Statement was published for the purpose Of Summarizing the salient clinical features of Angelman syndrome (AS) to assist the clinician in making a timely and accurate diagnosis. Considering the scientific advances made in the last 10 Nears, it is necessary now to review the validity of the original consensus criteria. As in the original consensus project, the methodology used for this review was to convene a group of scientists and clinicians, with experience in AS, to develop a concise consensus statement, supported by scientific publications where appropriate. It is hoped that this revised consensus document will facilitate further clinical Study of individuals with proven AS, and assist in the evaluation of those who appear to have clinical features of AS but have normal laboratory diagnostic testing. (c) 2006 Wiley-Liss. Inc.