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Title: A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome
Authors: de Ravel, Thomy ×
Taylor, Indira B
Van Oostveldt, Alex J T
Fryns, Jean-Pierre
Wilkie, Andrew O M #
Issue Date: Apr-2005
Series Title: European Journal of Human Genetics vol:13 issue:4 pages:503-505
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.
URI: 
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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