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Molecular Testing of recurrent mutations (Adapted with permission from [5]).
| Disorder | Gene (% responsible) | Gene (% responsible) Mutations | Mutation Detection Rate |
|---|---|---|---|
| Pfeiffer | FGFR2 (>95%) FGFR1 (<5%) | Several | 67% |
| Apert | FGFR2 (100%) | Ser252Trp, Pro253Arg | >98% |
| Crouzon | FGFR2 (100%) | Several | >50% |
| Crouzon with acanthosis | FGFR3 (100%) | Ala391Glu | 100% |
| Muenke | FGFR3 (100%) | Pro250Arg | 100% |
| Saerthre Chotzen | TWIST1 | Several mutations & deletions | 46% to 80% |
