FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

@article{Meyers1996FGFR2EI,
  title={FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.},
  author={Gregory A. Meyers and Diana D Day and Richard Goldberg and Donna L. Daentl and Kelly A. Przylepa and Liane J. Abrams and J. M. Graham and Murray Feingold and John B. Moeschler and Eileen F Rawnsley and Alan F. Scott and Ethylin Wang Jabs},
  journal={American journal of human genetics},
  year={1996},
  volume={58 3},
  pages={491-8}
}
Fibroblast growth factor receptor 2 (FGFR2) mutations have been associated with the craniosynostotic conditions Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Previously, mutations were described in the exons IIIa and IIIc, which form the extracellular, third immunoglobulin-like domain (IgIII) and adjacent linker regions, both of which are normally involved in ligand binding. For all three conditions, mutations were found in exon IIIc. Only in Crouzon syndrome were mutations identified in exon… CONTINUE READING

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