Some chondrodysplasias with short limbs: Molecular perspectives

被引：32

作者：

Cohen, MM ^{[1
]}

机构：

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

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

[3] Dalhousie Univ, Dept Community Hlth & Epidemiol, Halifax, NS B3H 3J5, Canada

[4] Dalhousie Univ, Dept Hlth Serv Adm, Halifax, NS B3H 3J5, Canada

[5] Dalhousie Univ, Dept Sociol & Social Anthropol, Halifax, NS B3H 3J5, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 112卷 / 03期

关键词：

achondroplasia; hypochondroplasia; thanatophoric dysplasia; San Diego platyspondylic dysplasia; SADDAN; osteogenesis imperfecta; Jansen metaphyseal chondrodysplasia; fibroblast growth factor receptor 3; type I collagen; parathyroid hormone/parathyroid hormone-related protein receptor;

D O I：

10.1002/ajmg.10780

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by fibroblast growth factor receptor 3 mutations. The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN. (C) 2002 Wiley-Liss, Inc.

引用

页码：304 / 313

页数：10

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