Ontology highlight
ABSTRACT:
SUBMITTER: Rousseau F
PROVIDER: S-EPMC3157949 | biostudies-literature | 2011 Aug
REPOSITORIES: biostudies-literature
Rousseau François F Labelle Yves Y Bussières Johanne J Lindsay Carmen C
The Clinical biochemist. Reviews 20110801 3
The fragile X mental retardation (FXMR) syndrome is one of the most frequent causes of mental retardation. Affected individuals display a wide range of additional characteristic features including behavioural and physical phenotypes, and the extent to which individuals are affected is highly variable. For these reasons, elucidation of the pathophysiology of this disease has been an important challenge to the scientific community. 1991 marks the year of the discovery of both the FMR1 gene mutatio ...[more]