- Diagnostic Importance of 3D CT Images in Klippel-Feil Syndrome with Multiple Skeletal Anomalies: A Case Report
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Yuksel M, Karabiber , Yuksel KZ, Parmaksiz
- KMID: 1777286
- Korean J Radiol.
- 2005 Dec;6(4):278-281.
- doi: 10.3348/kjr.2005.6.4.278
We present here the case of a 12-year-old boy who had Klippel-Feil syndrome with renal, cardiac and multiple skeletal anomalies, and we show the relevent three-dimensional computed tomography images. Our... -
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- Novel Compound Heterozygous Mutations in the Vitamin D Receptor Gene in a Korean Girl with Hereditary Vitamin D Resistant Rickets
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Song JK, Yoon KS, Shim KS, Bae CW
- KMID: 1777854
- J Korean Med Sci.
- 2011 Aug;26(8):1111-1114.
- doi: 10.3346/jkms.2011.26.8.1111
Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many... -
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