ETIOLOGY AND PATHOGENESIS OF HERITABLE CONNECTIVE-TISSUE DISEASES

被引：17

作者：

COLE, WG

机构：

[1] Department of Orthopaedic Surgery, Royal Children's Hospital, Melbourne

来源：

JOURNAL OF PEDIATRIC ORTHOPAEDICS | 1993年 / 13卷 / 03期

关键词：

CHONDRODYSPLASIAS; COLLAGEN; EHLERS-DANLOS SYNDROME; OSTEOGENESIS IMPERFECTA; SPONDYLOEPIPHYSEAL DYSPLASIA;

D O I：

10.1097/01241398-199305000-00023

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

There are many heritable disorders of the connective tissues and many of them produce major musculoskeletal anomalies. The etiology of most of them is unknown, but collagen mutations have been characterized in osteogenesis imperfecta (OI), in some forms of the Ehlers-Danlos syndrome (EDS) and in some of the chondrodysplasias. These diseases, particularly OI, provide a model for investigation of other heritable connective tissue diseases in which the mutant genes have not yet been identified.

引用

页码：392 / 403

页数：12

共 46 条

[21]

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[22]

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[23]

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[30]

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