OSTEOGENESIS IMPERFECTA

被引:44
作者
BYERS, PH
STEINER, RD
机构
[1] UNIV WASHINGTON, DEPT MED, SEATTLE, WA 98195 USA
[2] UNIV WASHINGTON, DEPT PEDIAT, SEATTLE, WA 98195 USA
[3] UNIV WASHINGTON, CTR INHERITED DIS, SEATTLE, WA 98195 USA
来源
ANNUAL REVIEW OF MEDICINE | 1992年 / 43卷
关键词
COLLAGEN; MUTATIONS; GENETIC DISEASE; BRITTLE BONES; OSTEOPENIA;
D O I
10.1146/annurev.med.43.1.269
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
Recent biochemical, linkage, and molecular genetic studies have demonstrated that, in almost every instance, osteogenesis imperfecta results from mutations in the genes that encode the chains of type I collagen. Such studies have done much to improve our understanding of the molecular basis of brittle bone disease, and have provided significant inroads into molecular diagnosis and prognostic counseling. Nonetheless, further investigation is needed urgently to identify forms of medical therapy that will decrease morbidity in osteogenesis imperfecta.
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页码:269 / 282
页数:14
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