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pro vyhledávání: '"Cecelia Smeenk"'
Autor:
Cecelia Smeenk, Nathalie G. Bérubé, Magdalena Jagla, Yves De Repentigny, Rashmi Kothary, David J. Picketts
Publikováno v:
Scopus-Elsevier
Several X-linked mental retardation syndromes are caused by mutations in the ATRX gene. Common clinical features associated with ATRX mutations include severe mental retardation, characteristic facial anomalies and variable degrees of urogenital defe