Article
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.
American journal of human genetics - 1 Mar 1996
Meyers G A, Day D, Goldberg R, Daentl D L, Przylepa K A, Abrams L J, Graham J M, Feingold M, Moeschler J B, Rawnsley E, Scott A F, Jabs E W
Abstract excerpt
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...
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