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Curr Opin Neurol. 1997 Apr;10(2):142-7.

Fragile X syndrome.

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Biochemistry Department, Oxford University, Oxford, UK.


The fragile X syndrome is characterized by mental handicap, facial dysmorphism and expression of a fragile site at Xq27.3. An expansion of a CGG repeat in the 5' end of the fragile X mental retardation 1 (FMR1) gene results in the absence of the encoded fragile X mental retardation protein, known to play an important role in RNA processing and probably the developmental maturation of brain neurons.

[Indexed for MEDLINE]

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