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

被引：0
作者：
Thomy J L de Ravel
Indira B Taylor
Alex J T Van Oostveldt
Jean-Pierre Fryns
Andrew O M Wilkie
机构：
[1] UZ Gasthuisberg,Center for Human Genetics
[2] KU Leuven,NDCLS, Weatherall Institute of Molecular Medicine
[3] The John Radcliffe,undefined
[4] Family Practitioner,undefined
来源：
European Journal of Human Genetics | 2005年 / 13卷
关键词：
FGFR2; tyrosine kinase; Crouzon syndrome;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：503 / 505
页数：2
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