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- Title
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
- Authors
de Ravel, Thomy J L; Taylor, Indira B; Van Oostveldt, Alex J T; Fryns, Jean-Pierre; Wilkie, Andrew O M
- 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.
- Publication
European journal of human genetics : EJHG, 2005, Vol 13, Issue 4, p503
- ISSN
1018-4813
- Publication type
Journal Article
- DOI
10.1038/sj.ejhg.5201325