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Mutation Analysis in Fibroblast Growth Factor Receptor 3 Gene in Korean Children with Simple Craniosynostosis

Park B, Son D, Kim D, Han K

  • KMID: 2144764
  • J Korean Soc Plast Reconstr Surg.
  • 2001 Nov;28(6):637-640.
The C749G(Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. In this study, the blood of 9...
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Mutation analysis of Fibroblast Growth Factor Receptor 3 (FGFR3) Gene in Korean Patients with Achondroplasia and Hypochondroplasia

Shin S, Choi IH, Cho TJ, Ryang SW, Yoon KY, Kim J, Park SS

  • KMID: 2089674
  • Korean J Clin Pathol.
  • 2001 Apr;21(2):164-168.
BACKGROUND: Achondroplasia is the most common form of dwarfism. The achondroplasia class consists of achondroplasia, thanatophoric dysplasia and hypochondroplasia. Clinical symptoms are variable, but the common gene, fibroblast growth factor...
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