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Fragile X syndrome: a review of clinical and molecular diagnoses

BACKGROUND: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000–7000 men and 1:4000–6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: mo...

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Detalhes bibliográficos
Publicado no:Ital J Pediatr
Main Authors: Ciaccio, Claudia, Fontana, Laura, Milani, Donatella, Tabano, Silvia, Miozzo, Monica, Esposito, Susanna
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5395755/
https://ncbi.nlm.nih.gov/pubmed/28420439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-017-0355-y
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