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Original Article

Mutational Analysis of MECP2 Gene in 34 Rett Syndrome

Sang Jo Park, Tae Gyu Hwang, Byeong Hee Son, Chul Min Kim

Clin Exp Pediatr. 2002;45(10):1263-1272. Published online October 15, 2002

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...

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