- A Case of Moyamoya Disease in a Girl with Thyrotoxicosis
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Lee R, Sung K, Park YM, Yu JJ, Koh YC, Chung S
- KMID: 1758625
- Yonsei Med J.
- 2009 Aug;50(4):594-598.
- doi: 10.3349/ymj.2009.50.4.594
Moyamoya disease is a cerebrovascular disorder of unknown cause, characterized by slowly progressive bilateral stenosis or occlusion of the internal carotid arteries and produces collateral vessels. Moyamoya syndrome has rarely... -
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- Down-Turner Syndrome (45,X/47,XY,+21): Case Report and Review
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Ryu SW, Lee G, Baik CS, Shim SH, Kim JT, Lee JS, Lee KA
- KMID: 1096808
- Korean J Lab Med.
- 2010 Apr;30(2):195-200.
- doi: 10.3343/kjlm.2010.30.2.195
We report the case of a 3-yr-old boy with Down-Turner mosaicism and review the previous reports of Down-Turner syndrome with documented karyotyping and clinical features. The patient showed clinical features... -
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- A Novel Mutation in the GATA1 Gene Associated with Acute Megakaryoblastic Leukemia in a Korean Down Syndrome Patient
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Kim IS, Park ES, Lim JY, Ki CS, Chi HS
- KMID: 1107540
- J Korean Med Sci.
- 2008 Dec;23(6):1105-1108.
- doi: 10.3346/jkms.2008.23.6.1105
Although acquired mutations in the GATA1 gene have been reported for Down syndrome-related acute megakaryoblastic leukemia (DS-AMKL) in Caucasians, this is the first report of a Korean Down syndrome patient... -
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- Autosomal Dominant Type I Osteopetrosis Is Related with Iatrogenic Fractures in Arthroplasty
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van Hove R, de Jong T, Nolte PA
- KMID: 1794740
- Clin Orthop Surg.
- 2014 Dec;6(4):484-488.
- doi: 10.4055/cios.2014.6.4.484
Autosomal dominant osteopetrosis (ADO) is a sclerotic bone disorder due to failure of osteoclasts. ADO poses difficulties during arthroplasty because of the increased chance for iatrogenic fractures due to sclerotic... -
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