- Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome
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Kim IJ, Kim YJ, Son BH, Nam SO, Kang HC, Kim HD, Yoo MA, Choi OH, Kim CM
- KMID: 1111404
- Exp Mol Med.
- 2006 Apr;38(2):119-125.
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000- 15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl- CpG-binding protein 2). In... -
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