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Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2 |
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| Authors: | Hiromichi Ariga Yuichi Endo Niro Ujiie Tsutomu Ishii Naohisa Ishibashi Teizo Fujita Hitoshi Suzuki |
| Affiliation: | Department of Pediatrics, Fukushima Medical University School of Medicine, Fukushima, Japan. ariga@fmu.ac.jp |
| Abstract: | |
| Keywords: | craniosynostosis fibroblast growth factor receptor genotype-phenotype correlation missense mutation Pfeiffer syndrome |