Article
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.
Cerebellum (London, England) - 1 Oct 2016
Debrey Sarah M, Leehey Maureen A, Klepitskaya Olga, Filley Christopher M, Shah Raj C, Kluger Benzi, Berry-Kravis Elizabeth, Spector Elaine, Tassone Flora, Hall Deborah A
Abstract excerpt
Considerable research has focused on patients with trinucleotide (CGG) repeat expansions in the fragile X mental retardation 1 (FMR1) gene that fall within either the full mutation (>200 repeats) or premutation range (55-200 repeats). Recent interest in individuals with gray zone expansions (41-54 CGG repeats) has grown due to reported phenotypes that are similar to those observed in premutation carriers,...
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