Fragile X syndrome: a review of clinical and molecular diagnoses

Fragile X syndrome: a review of clinical and molecular diagnoses

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...

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Bibliographic Details
Main Authors: Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo, Susanna Esposito
Format: Article
Language:English
Published: BMC 2017-04-01
Series:Italian Journal of Pediatrics
Subjects:
Intellectual disability
Autism spectrum disorder
FMR1
Triplet expansion
Fragile X syndrome
Online Access:http://link.springer.com/article/10.1186/s13052-017-0355-y

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http://link.springer.com/article/10.1186/s13052-017-0355-y

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