Article
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.
American journal of medical genetics. Part A - 15 Apr 2003
Weaving Linda S, Williamson Sarah L, Bennetts Bruce, Davis Mark, Ellaway Carolyn J, Leonard Helen, Thong Meow-Keong, Delatycki Martin, Thompson Elizabeth M, Laing Nigel, Christodoulou John
Abstract excerpt
Rett syndrome (RTT) is a clinically defined disorder that describes a subset of patients with mutations in the X-linked MECP2 gene. However, there is a high degree of variability in the clinical phenotypes produced by mutations in MECP2, even amongst classical RTT patients. In a large-scale screening project, this variability has been examined by looking at the effects of mutation type, functional domain affected...
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