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- W2118778872 abstract "Since the advent of DNA testing after 1991, variations in molecular patterns, such as the CGG expansion length, mosaicism, partial methylation, and X-inactivation, have been correlated with the degree of phenotypic involvement in fragile X syndrome. Although some reports conflict it appears that a low CGG repeat number within the full mutation range or lack of methylation, whether almost complete or partial, is associated with only mild involvement in males. A subgroup of individuals with the premutation may also demonstrate mild problems associated with fragile X syndrome. This article reviews preliminary studies of FMRP expression and discusses a hypothesized correlation between FMRP expression and phenotypic involvement. Molecular and clinical correlations are advancing our understanding of the mild range of phenotypic involvement in fragile X syndrome, which involves learing disabilities and emotional difficulties, but not mental retardation. © 1995 Wiley-Liss, Inc." @default.
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- W2118778872 date "1995-01-01" @default.
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- W2118778872 title "Molecular and clinical correlations in fragile X syndrome" @default.
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- W2118778872 doi "https://doi.org/10.1002/mrdd.1410010408" @default.
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