Abstract
In this chapter we aim at highlighting one of the most common inherited disorder causing intellectual disabilities: fragile X syndrome. We describe the history, etiology, prevalence and list the many clinical manifestations observed in the disorder. We also discuss the contribution of the lack of FMRP to the development of different pathological/clinical phenotypes. Finally, we give an overview on the diagnostic techniques and management strategies.
Original language | English (US) |
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Title of host publication | The Curated Reference Collection in Neuroscience and Biobehavioral Psychology |
Publisher | Elsevier Science Ltd. |
ISBN (Electronic) | 9780128093245 |
DOIs | |
State | Published - Jan 1 2016 |
Keywords
- CGG repeats
- FMR1
- Fragile X syndrome
- Full mutation
- Neurodevelopmental disorder
- Premutation
ASJC Scopus subject areas
- Medicine(all)