ARX spectrum disorders: making inroads i
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Cheryl Shoubridge; Tod Fullston; Jozef Gรฉcz
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Article
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2010
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John Wiley and Sons
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English
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The Aristaless-related homeobox gene (ARX) is one of the most frequently mutated genes in a spectrum of X-chromosome phenotypes with intellectual disability (ID) as their cardinal feature. To date, close to 100 families and isolated cases have been reported to carry 44 different mutations, the major