Article
FMR1 and the fragile X syndrome: human genome epidemiology review.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Crawford D C, Acuña J M, Sherman S L
Abstract excerpt
The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms of inherited mental retardation. The cognitive, behavioral, and physical phenotype varies by sex, with males being more severely affected because of the X-linked inheritance of the mutation. The disorder-causing mutation is the amplification of a CGG repeat in the 5' untranslated region of FMR1 located...
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