- A Case of Smith-Magenis Syndrome with Multiple Organ Malformations
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Kim SE, Kim G, Suh JS, Lee J
- KMID: 2371416
- Neonatal Med.
- 2017 Feb;24(1):49-52.
- doi: 10.5385/nm.2017.24.1.49
Smith-Magenis syndrome (SMS) is a genetic disease caused by microdeletion of p11.2 in chromosome 17. SMS patients have characteristic facial features and accompanying congenital malformations involving the brain, cardiovascular system,... -
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- Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome
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Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB
- KMID: 2157987
- J Korean Med Sci.
- 2012 Dec;27(12):1586-1590.
- doi: 10.3346/jkms.2012.27.12.1586
Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently... -
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- Diagnosis of Smith-Magenis Syndrome in a Patient with Mental Retardation and Sleep Disturbance Confirmed by Multiplex Ligation-dependent Probe Amplification
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Oh J, Lee S, Lee KA, Yoo J
- KMID: 2407566
- Lab Med Online.
- 2018 Apr;8(2):71-74.
- doi: 10.3343/lmo.2018.8.2.71
No abstract available. -
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- Two cases of Smith-Magenis syndrome
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Jung SK, Park KH, Shin HK, Eun SH, Eun BL, Yoo KH, Hong YS, Lee JW, Bae SY
- KMID: 2281076
- Korean J Pediatr.
- 2009 Jun;52(6):701-704.
- doi: 10.3345/kjp.2009.52.6.701
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... -
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- Two Cases of Smith-Magenis Syndrome with Tetralogy of Fallot Confirmed by FISH
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Suk JH, Lee SG, Bae JC, Lee HJ, Kim SH
- KMID: 2238966
- Korean J Lab Med.
- 2005 Oct;25(5):361-364.
Smith-Magenis syndrome (SMS) is characterized by distinctive facial features, developmental delay, cognitive impairment, and behavioral abnormalities and associated with interstitial deletion of chromosome 17p11.2. We report 2 cases of SMS... -
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