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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 49 - 52 (4page)
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초록· 키워드
오류제보하기
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, and urinary tract. Compared with the distinctive facial characteristics, organ malformations are less common. Several cases of SMS with tetralogy of Fallot have been reported in Korea, none of which were accompanied by other organ malformations.
We present the first case report in Korea of an SMS patient with malformations of the brain, heart, and urinary tract.
목차
등록된 정보가 없습니다.
참고문헌 (11)
참고문헌 신청
De Leersnyder H / 2013 / Smith-Magenis syndrome / Handb Clin Neurol 111 : 295 ~ 296
Edelman EA / 2007 / Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases / Clin Genet 71 : 540 ~ 550
Elsea SH / 2008 / Smith-Magenis syndrome / Eur J Hum Genet 16 : 412 ~ 421
Huang C / 2012 / Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China / Genet Mol Res 11
Maya I / 2014 / Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome / Am J Med Genet A 164a : 1940 ~ 1946
Edelman EA / 2007 / Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases / Clin Genet 71 : 540 ~ 550
Elsea SH / 2008 / Smith-Magenis syndrome / Eur J Hum Genet 16 : 412 ~ 421
Huang C / 2012 / Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China / Genet Mol Res 11
Maya I / 2014 / Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome / Am J Med Genet A 164a : 1940 ~ 1946
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