Sacral appendage associated with a mutation in FGFR2

被引：10

作者：

Sweeney, E

Ellis, I

May, P

机构：

[1] Royal Liverpool Childrens Hosp, Merseyside & Cheshire Clin Genet Serv, Liverpool L12 2AP, Merseyside, England

[2] Alder Hey Childrens Hosp, Dept Paediat Neurosurg, Liverpool L12 2AP, Merseyside, England

来源：

CLINICAL DYSMORPHOLOGY | 2002年 / 11卷 / 03期

关键词：

craniosynostosis; FGFR2; sacral appendage;

D O I：

10.1097/00019605-200207000-00016

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a baby with craniosynostosis and a sacral appendage who has been found to have a Ser351Cys mutation in the fibroblast growth factor receptor 2 gene (FGFR2). This is the first report of sacral appendage associated with a confirmed mutation in one of the FGFR genes, and adds to the spectrum of abnormalities which can be seen in patients with FGFR mutations.

引用

页码：221 / 222

页数：2

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