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Direct linkSaldarriaga, Wilmar; González-Teshima, Laura Yuriko; Forero-Forero, Jose Vicente; Tang, Hiu-Tung; Tassone, Flora – Journal of Intellectual Disabilities, 2022
Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 ("FMR1") gene, producing a variable expression of the Fragile X…
Descriptors: Genetic Disorders, Heredity, Symptoms (Individual Disorders), Intellectual Disability
