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Características da comunicação em indivíduos com a síndrome do X frágilCharacteristics of the communication in individuals with fragile X syndrome
(Academia Brasileira de Neurologia - ABNEURO, 2002)
Achados fonoaudiológicos em indivíduos com a síndrome do cromossomo X frágil
(Universidade Federal de São Paulo (UNIFESP), 1992)
The fragile x-associated tremor and ataxia syndrome (FXTAS)
(Academia Brasileira de Neurologia - ABNEURO, 2010)
FXTAS (Fragile X-associated tremor and ataxia syndrome) is a late- onset neurodegenerative disorder affecting mainly men, over 50 years of age, who are carriers of the FMR1 gene premutation. The full mutation of this gene ...
Fragile X Syndrome.
(2015-02-10)
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 ...