期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 140A, 期 5, 页码 413-418出版社
WILEY
DOI: 10.1002/ajmg.a.31074
关键词
angelman syndrome; imprinting center; 15q11.2-q13; paternal UPD; diagnosis; criteria behavioral phenotype; EEG
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据