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FRA12A

Tuesday 4 December 2007

Pathology

- A high level of cytogenetic expression of the rare folate-sensitive fragile site FRA12A is significantly associated with mental retardation. (#17236128#)

- DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A. (#17236128#)

References

- Winnepenninckx B, Debacker K, Ramsay J, Smeets D, Smits A, FitzPatrick DR, Kooy RF. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am J Hum Genet. 2007 Feb;80(2):221-31. PMID: #17236128#