SKELETAL DYSPLASIAS--INTERNATIONAL REGISTRY

骨骼发育不良--国际登记处

• 批准号: 6306641
• 负责人: DAVID L RIMOIN
• 金额: $ 0.1万
• 依托单位: LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-12-01 至 2000-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6306641
• 关键词: achondroplasia; bone development disorder; cartilage development; clinical research; dwarfism; genetics; human subject; molecular pathology; patient /disease registry; skeletal disorder

The skeletal dysplasias are a heterogeneous group of disorders which result in disproportionate short stature and/or skeletal deformities. This study involves a multidisciplinary investigation of the clinical, genetic, morphologic, biochemical and molecular characteristics of the skeletal dysplasias. In the past year, these studies have resulted in the identification of the genes responsible for several dysplasias, including pseudoachondroplasia and achondrogenesis. In the future the GCRC will continue to assist in specimen collection for these molecular studies.

骨骼发育不良是一组异质性疾病，可导致不成比例的身材矮小和/或骨骼畸形。 这项研究涉及骨骼发育不良的临床、遗传、形态、生化和分子特征的多学科研究。 在过去的一年中，这些研究已经鉴定出导致多种发育不良的基因，包括假性软骨发育不全和软骨形成。 未来，GCRC 将继续协助这些分子研究的标本采集。