ITEM METADATA RECORD
Title: MECP2 Duplication Syndrome
Authors: Van Esch, Hilde # ×
Issue Date: Apr-2012
Publisher: S. Karger AG
Series Title: Molecular Syndromology vol:2 issue:3-5 pages:128-136
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.
ISSN: 1661-8769
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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