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Determination of the Genomic Structure of the XNP/ATRX Gene Encoding a Potential Zinc Finger Helicase

Archive ouverte | Cardoso, Carlos | CCSD

International audience. The XNP/ATR-X gene is involved in several X-linked mental retardation phenotypes: the ATR-X syndrome, the Juberg-Marsidi syndrome, and some severe mental retardation phenotypes without alpha-...

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

Archive ouverte | Villard, Laurent | CCSD

International audience. We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and associated dysmorphology. Because nearly half of the mutations in this gen...

Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinical and molecular data in one family

Archive ouverte | Ronce, Nathalie | CCSD

International audience. Linkage analysis was performed in three generations of a French family segregating a syndromal form of X-linked mental retardation. All affected males had neonatal hypotonia, seizures, muscul...

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