Center for Genetic Disorders of Cognition and Behavior

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First Comprehensive Genetic Analysis of Rett Syndrome Reveals Relationship Between Gene Mutations and Symptom Severity

March 10, 2008
International team conducts largest-ever study examining clinical features of symptoms

(Baltimore, MD) - An international collaboration of scientists has completed the first comprehensive analysis on the clinical effects of the genetic mutations involved in Rett Syndrome, a severe childhood neurological disorder on the autism spectrum caused by mutations in the gene MECP2. The current study, published in the March edition of Neurology, confirms and expands researchers' understanding of the distinctive clinical presentation of specific mutations in Rett syndrome.

Genetic Disorders of Cognition and Behavior

The Center for Genetic Disorders of Cognition and Behavior (GCB) focuses on advancing research and clinical practice for genetic disorders associated with severe cognitive and behavioral impairment in order to improve the quality of life for patients and their families.

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