- Case Report
- Two cases of Smith-Magenis syndrome
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Seong Kwan Jung, Kyu Hee Park, Hae Kyung Shin, So Hee Eun, Baik-Lin Eun, Kee Hwan Yoo, Young Sook Hong, Joo Won Lee, Sook Young Bae
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Clin Exp Pediatr. 2009;52(6):701-704. Published online June 15, 2009
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SmithMagenis syndrome (SMS) is a rare disorder with multiple congenital anomalies caused by a heterozygous interstitial deletion involving chromosome 17p11.2, where the retinoic acid-induced 1 (RAI1) gene is located, or by a mutation of RAI1. Approximately 90% of the patients with SMS have a detectable 17p11.2 microdeletion on fluorescence in-situ hybridization (FISH). SMS is characterized by mental retardation, distinctive behavioral... |
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