Article

Fragile X syndrome and fragile X-associated disorders

2017-12-08

Abstract excerpt

Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1 . FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical i...

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Literature Corpus work: d3b068fc-ac50-5c17-9665-f2e9b1b6293c
DOI: 10.12688/f1000research.11885.1

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