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K.B. Penteado

Publications of : K.B. Penteado
Human Genetics   Research Article

Molecular Diagnosis of X-Fragile Syndrome: Perspectives for the Public Health System in the Central Region of Brazil

X-Fragile Syndrome (FXS) is the most common cause of inherited intellectual disability and the second of genetic origin, with an estimated prevalence of 1/4000 men and 1/6000 women. The etiology is associated with a trinucleotide expansion of CGG sequences and hypermethylation of the promoter region of the FMR1 (Fragile-X Mental Retardation-1) gene, located in the X.. Read More»

Genet. Mol. Res. 16(4): gmr16039848

DOI: 10.4238/gmr16039848