Article
Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 15 Feb 2004
Vincent John B, Thevarkunnel Sandy, Kolozsvari Debbie, Paterson Andrew D, Roberts Wendy, Scherer Stephen W
Abstract excerpt
Evidence from the high male to female ratio of individuals with autism as well as suggestive linkage data have implicated the possible involvement of X chromosomal loci in the aetiology of autism. Studies of the FMR1 gene on Xq27 have shown that occasionally individuals, and particularly females, with the [CGG] repeat expansion and methylation mutation may present with autistic symptoms. However, molecular...
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