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...
| প্রধান লেখক: | , , , , |
|---|---|
| বিন্যাস: | Journal article |
| ভাষা: | English |
| প্রকাশিত: |
2012
|