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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.

Original publication

DOI

10.1038/sj.ejhg.5201325

Type

Journal article

Journal

Eur J Hum Genet

Publication Date

04/2005

Volume

13

Pages

503 - 505

Keywords

Acrocephalosyndactylia, Adult, Amino Acid Sequence, Amino Acid Substitution, Child, Child, Preschool, Craniofacial Dysostosis, Female, Heterozygote, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Pedigree, Polymerase Chain Reaction, Receptor Protein-Tyrosine Kinases, Receptor, Fibroblast Growth Factor, Type 2, Receptors, Fibroblast Growth Factor, Sequence Homology, Amino Acid