[Rett syndrome. Classical form and preserved speech variant as a different phenotype effect of deletion with the same starting point in MeCP2 gene - report of 2 cases].

Abstract excerpt

BACKGROUND: Rett syndrome is a common cause of mental retardation in girls. Characteristic features of RS include: profound impairment of cognitive abilities, impaired communication skills, stereotypic movements, seizures, respiratory disorders, dystonia. Classical Rett syndrome as well as varian...

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