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  • Title: A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
    Author: de Ravel TJ, Taylor IB, Van Oostveldt AJ, Fryns JP, Wilkie AO.
    Journal: Eur J Hum Genet; 2005 Apr; 13(4):503-5. PubMed ID: 15523492.
    Abstract:
    We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. Our observations expand both the clinical and molecular spectrum of this unusual subset of FGFR2 mutations.
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