MECP2 Duplication Syndrome
H Van Esch - Molecular syndromology, 2012 - karger.com
H Van Esch
Molecular syndromology, 2012•karger.comSince 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.
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.
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.
Karger