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A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
Eur J Hum Genet. 2005 Apr; 13(4):503-5.EJ

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.

Authors+Show Affiliations

Center for Human Genetics, UZ Gasthuisberg, KU Leuven, Leuven, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15523492

Citation

de Ravel, Thomy J L., et al. "A Further Mutation of the FGFR2 Tyrosine Kinase Domain in Mild Crouzon Syndrome." European Journal of Human Genetics : EJHG, vol. 13, no. 4, 2005, pp. 503-5.
de Ravel TJ, Taylor IB, Van Oostveldt AJ, et al. A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. Eur J Hum Genet. 2005;13(4):503-5.
de Ravel, T. J., Taylor, I. B., Van Oostveldt, A. J., Fryns, J. P., & Wilkie, A. O. (2005). A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. European Journal of Human Genetics : EJHG, 13(4), 503-5.
de Ravel TJ, et al. A Further Mutation of the FGFR2 Tyrosine Kinase Domain in Mild Crouzon Syndrome. Eur J Hum Genet. 2005;13(4):503-5. PubMed PMID: 15523492.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. AU - de Ravel,Thomy J L, AU - Taylor,Indira B, AU - Van Oostveldt,Alex J T, AU - Fryns,Jean-Pierre, AU - Wilkie,Andrew O M, PY - 2004/11/4/pubmed PY - 2005/7/22/medline PY - 2004/11/4/entrez SP - 503 EP - 5 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 13 IS - 4 N2 - 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. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/15523492/A_further_mutation_of_the_FGFR2_tyrosine_kinase_domain_in_mild_Crouzon_syndrome_ DB - PRIME DP - Unbound Medicine ER -