Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level

被引：28

作者：

Cohen, MM ^{[1
]}

机构：

[1] Dalhousie Univ, Fac Dent, Dept Oral & Maxillofacial Sci, Halifax, NS B3H 3J5, Canada

[2] Dalhousie Univ, Fac Med, Dept Pediat, Halifax, NS B3H 3J5, Canada

来源：

INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY | 1998年 / 27卷 / 06期

关键词：

fibroblast growth factor receptor 3 (FGFR3); endochondral bone formation; disproportionate short stature; cranial base; nasal capsule; midface deficiency; craniosynostosis; cloverleaf skull;

D O I：

10.1016/S0901-5027(98)80036-2

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

This is the second of three articles on modern genetic concepts of a number of syndromes and disorders. Three short limb skeletal dysplasias with additional abnormalities of the skull are discussed. All are caused by mutations on fibroblast growth factor receptor 3 (FGFR3). A pathogenetic hypothesis is proposed to explain differences in the severity of short stature, midface deficiency, and craniosynostosis.

引用

页码：451 / 455

页数：5

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