Fragile X syndrome: a review of clinical and molecular diagnoses

• Główni autorzy: Claudia Ciaccio (Autor), Laura Fontana (Autor), Donatella Milani (Autor), Silvia Tabano (Autor), Monica Miozzo (Autor), Susanna Esposito (Autor)
• Format: Książka
• Wydane: BMC, 2017-04-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract 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...