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  • Title: [ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].
    Author: Giuliano F, Badens C, Richelme C, Levy N, Lambert JC.
    Journal: Arch Pediatr; 2005 Sep; 12(9):1372-5. PubMed ID: 16125058.
    Abstract:
    The alpha-thalassemia/mental retardation syndrome, X linked, also named ATR-X syndrome is a X-linked mental retardation syndrome. Mutations have been found in the ATRX gene in about one half of the patients. We report a typical clinical case. The clinical evidence leads us to continue the analysis of the gene despite a negative first screening. Indeed a new mutation was found, just behind the helicase domain, bringing up the interest of an effective collaboration between physicians and biologists.
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