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Síndrome de Cogan Reese Cogan Reese syndrome
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190 Abstract Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of FMRP, a protein involved in synaptic plasticity and maturation. Individuals with FXS present w...
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ژورنال
عنوان ژورنال: Revista chilena de pediatría
سال: 1986
ISSN: 0370-4106
DOI: 10.4067/s0370-41061986000600021