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Rett syndrome: Clinical update and review of recent genetic advances
Author(s) -
Ellaway C,
Christodoulou J
Publication year - 1999
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.1999.355403.x
Subject(s) - rett syndrome , medicine , natural history , xq28 , neurodevelopmental disorder , genetic disorder , genetic syndromes , pediatrics , phenotype , psychiatry , neuroscience , genetics , disease , pathology , gene , autism , psychology , biology
: Rett syndrome, a severe neurodevelopmental disorder occurring almost exclusively in females, is thought to be the second most common cause of profound mental retardation in females after Down syndrome. Recent genetic advances suggest the gene for Rett syndrome to be located on the distal arm of the X chromosome, Xq28. This manuscript reviews the clinical phenotype, natural history and current genetic understanding of the disorder.