Short-limb skeletal dysplasias and craniosynostosis: What do they have in common?

被引：15

作者：

Cohen, MM ^{[1
]}

机构：

[1] DALHOUSIE UNIV,FAC MED,DEPT PEDIAT,HALIFAX,NS B3H 3J5,CANADA

来源：

PEDIATRIC RADIOLOGY | 1997年 / 27卷 / 05期

关键词：

D O I：

10.1007/s002470050165

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Fibroblast growth factor receptor mutations cause some of the main short-limb skeletal dysplasia, and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome. Much work remains to be done in unraveling the pathogenesis of these phenotypes.

引用

页码：442 / 446

页数：5

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