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.
MeSH
AcrocephalosyndactyliaAdultAmino Acid SequenceAmino Acid SubstitutionChildChild, PreschoolCraniofacial DysostosisFemaleHeterozygoteHumansMaleMiddle AgedMolecular Sequence DataMutation, MissensePedigreePolymerase Chain ReactionReceptor Protein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 2Receptors, Fibroblast Growth FactorSequence Homology, Amino Acid
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 -