Do craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?

被引：7

作者：

Anderson, PJ ^{[1
]}

Netherway, DJ

Roscioli, T

机构：

[1] Womens & Childrens Hosp, Australian Craniofacial Unit, Adelaide, SA 5006, Australia

[2] Monash Univ, Sch Dent, Melbourne, Vic 3004, Australia

[3] Monash Univ, Dept Anat & Cell Biol, Melbourne, Vic 3004, Australia

[4] S Eastern Lab Serv, Sydney, NSW, Australia

[5] Univ Adelaide, Australian Craniofacial Inst, Adelaide, SA, Australia

来源：

JOURNAL OF CRANIOFACIAL SURGERY | 2006年 / 17卷 / 01期

关键词：

craniosynostosis; mutation; Apert; Crouzon; Pfeiffer;

D O I：

10.1097/01.scs.0000169000.58376.0f

中图分类号：

R61 [外科手术学];

学科分类号：

摘要：

We present three cases with both FGFR2 mutations and novel TWIST sequence variants. The clinical outcome in this cohort is compared with that in individuals with a single mutation.

引用

页码：166 / 172

页数：7

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