Article
Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population.
The Journal of molecular diagnostics : JMD - 1 Jul 2009
Fernandez-Carvajal Isabel, Walichiewicz Paulina, Xiaosen Xie, Pan Ruiqin, Hagerman Paul J, Tassone Flora
Abstract excerpt
Fragile X syndrome, which is caused by expanded CGG repeats of the FMR1 gene, is associated with a broad spectrum of clinical involvement and is the most common inherited form of intellectual disability. Early diagnosis and intervention are likely to lead to improved outcome for children with fragile X syndrome, but such strategies require better estimates of the frequencies of expanded alleles of the FMR1 gene....
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