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Parkinsonism and cognitive decline in a fragile X mosaic male

✍ Scribed by Deborah Hall; Laura Pickler; Karen Riley; Flora Tassone; Randi Hagerman


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
663 KB
Volume
25
Category
Article
ISSN
0885-3185

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πŸ“œ SIMILAR VOLUMES


Mosaicism for a full mutation and a norm
✍ Schmucker, Beatrice; Seidel, JοΏ½rg πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 2 views

Confirmation of the clinical diagnosis of fragile X syndrome by molecular tests is based on both the presence of a full mutation and methylation of the promotor region of the FMR1 gene. The mechanism leading to mosaic alleles of repeat number and the role of methylation in this process is still unde

Does IQ decline with age in fragile-X? A
✍ Hay, David A. πŸ“‚ Article πŸ“… 1994 πŸ› John Wiley and Sons 🌐 English βš– 732 KB

## Abstract The recent claims for a decline in intelligence test performance in males and females with fragile‐X (fra(X)) syndrome have implications both clinically and in evaluating the underlying neurological basis. This commentary identifies three key issues in evaluating evidence for a decline