SKELETAL DYSPLASIAS--INTERNATIONAL REGISTRY

骨骼发育不良--国际登记处

• 批准号: 5220441
• 负责人: DAVID L RIMOIN
• 金额: --
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/5220441
• 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不同的疾病， 导致不成比例的矮小和/或骨骼畸形。 这项研究涉及多学科的临床调查， 该病毒的遗传、形态、生化和分子特征 骨骼发育不良。在过去的一年里，这些研究导致了 识别导致几种不典型增生的基因， 包括假性软骨发育不全和软骨生成。在未来， GCRC将继续协助收集这些分子的样本 学习。