title: Fragile X syndrome.
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.
authors: Institute of Medical Genetics of Catholic University, Rome, Italy.
authors: Alessandra
authors: A
authors: Terracciano
authors: Pietro
authors: P
authors: Chiurazzi
authors: Giovanni
authors: G
authors: Neri
mesh_terms: D001259:Ataxia / Q000150:complications / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000150:complications / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000235:genetics; D011485:Protein Binding; D016601:RNA-Binding Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human