- A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia
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Ko JM, Kwack KS, Baek KN, Cho DY, Kim HJ
- KMID: 2244895
- J Genet Med.
- 2009 Jun;6(1):81-86.
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and... -
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- The spectrum of 5p deletion in Korean 20 patients with Cri du chat syndrome
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Park SJ, Kim SR, Baek KN, Yoon JN, Jeong EJ, Kown JE, Kim HJ
- KMID: 2288516
- J Genet Med.
- 2007 Dec;4(2):133-141.
PURPOSE: Cri-du-Chat syndrome (CdCs) is a rare but clinically recongnizable condition with an estimated incidence of 1:50,000 live births. The clinical characteristics of the syndrome include severe psychomotor and mental... -
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