Rett syndrome is a severe X-linked neurodevelopmental disorder and the second most common cause of mental retardation in females. In addition to the classic form characterized by typical clinical manifestations, five variants have been described. Mutations in the MECP2 gene account for the majority of Rett cases, whereas genetic heterogeneity is associated with the variants. This review will focus on recently published work that reveals novel aspects of the molecular biology of Rett syndrome. © 2005 Elsevier Ltd. All rights reserved.
Mari, F., KILSTRUP-NIELSEN, C., Cambi, F., Speciale, C., Mencarelli, M.A., Renieri, A. (2005). Genetics and mechanisms of disease in Rett syndrome. DRUG DISCOVERY TODAY: DISEASE MECHANISMS, 2(4), 419-425 [10.1016/j.ddmec.2005.11.001].
Genetics and mechanisms of disease in Rett syndrome
MARI F.;RENIERI A.
2005-01-01
Abstract
Rett syndrome is a severe X-linked neurodevelopmental disorder and the second most common cause of mental retardation in females. In addition to the classic form characterized by typical clinical manifestations, five variants have been described. Mutations in the MECP2 gene account for the majority of Rett cases, whereas genetic heterogeneity is associated with the variants. This review will focus on recently published work that reveals novel aspects of the molecular biology of Rett syndrome. © 2005 Elsevier Ltd. All rights reserved.
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https://hdl.handle.net/11365/11572
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