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Fragile X syndrome

✍ Scribed by Alessandra Terracciano; Pietro Chiurazzi; Giovanni Neri

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 84 KB
Volume: 137C
Category: Article
ISSN: 1552-4868
DOI: 10.1002/ajmg.c.30062

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✦ Synopsis

Abstract

Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with mental retardation and excess growth. This review highlights the most recent advances in the field of fragile X research. © 2005 Wiley‐Liss, Inc.

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