Review
doi: 10.1097/00019052-199704000-00012.
Fragile X syndrome
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- PMID: 9146995
- DOI: 10.1097/00019052-199704000-00012
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Review
Fragile X syndrome
Curr Opin Neurol.
1997 Apr.
Abstract
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.
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