Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.
The management of a 1-year-old boy with Crouzonoid features is presented with a description of molecular genetic investigations that revealed a previously unreported mutation of the fibroblast growth factor receptor 2 (FGFR2) gene encoding the amino acid substitution p.Cys62Arg within the immunoglob...
主要な著者: | , , , , |
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フォーマット: | Journal article |
言語: | English |
出版事項: |
2012
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