Article
Does genotype predict phenotype in Rett syndrome?
Journal of child neurology - 1 Sept 2005
Ham Andrea L, Kumar Asmita, Deeter Rose, Schanen N Carolyn
Abstract excerpt
Mutations in the X-linked gene encoding the methyl-CpG binding protein MeCP2 are the primary cause of classic and atypical Rett syndrome and have recently been shown to contribute to other neurodevelopmental disorders of varying severity. To determine whether there are molecular correlates to the phenotypic heterogeneity, numerous groups have performed genotype-phenotype correlation studies. These studies have...
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