MECP2重复综合征
MECP2 Duplication Syndrome.
作者信息
Van Esch H
机构信息
Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
出版信息
Mol Syndromol. 2012 Apr;2(3-5):128-136. doi: 10.1159/000329580. Epub 2011 Jul 5.
Abstract
Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment of a clinically recognizable disorder. Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome.
摘要
自从首次报道明确证实MECP2基因重复与一种严重的伴有综合征的智力残疾之间存在因果关系以来，已发现并报告了许多新患者，已发表家族中的病因也已明确。这导致了一种临床上可识别的疾病的确立。在此，我们回顾了129例已报道和未报道的患有MECP2重复综合征男性患者的临床资料。
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