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X-linked intellectual disability: Unique vulnerability of the male genome

✍ Scribed by Roger E. Stevenson; Charles E. Schwartz


Publisher
Wiley (John Wiley & Sons)
Year
2009
Tongue
English
Weight
400 KB
Volume
15
Category
Article
ISSN
1940-5510

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GRIA3 encodes glutamate receptor ionotropic AMPA (alpha-amino-3-hydroxy-5-methyl-4isoxazolepropionic acid) subunit 3 and has been previously involved in X-linked intellectual disability (ID). We report on a male proband with ID and epilepsy associated with a duplication mapping within a gene desert,