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Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1
per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966.
RTT involves developmental regression characterized stereotypic hand movements, tremors, gait
apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing
gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of
MECP2... |
