- The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene
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Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH
- KMID: 1713200
- J Korean Med Sci.
- 2007 Apr;22(2):352-356.
- doi: 10.3346/jkms.2007.22.2.352
Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features.... -
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