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Mol Syndromol. 2012 Apr;2(3-5):128-136. Epub 2011 Jul 5.

MECP2 Duplication Syndrome.

Author information

1
Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.

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.

PMID:
22679399
PMCID:
PMC3366699
DOI:
000329580

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