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Eur J Hum Genet. 2005 Apr;13(4):503-5.

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.

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  • 1Center for Human Genetics, UZ Gasthuisberg, KU Leuven, Leuven, Belgium.

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.

PMID:
15523492
[PubMed - indexed for MEDLINE]
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