Exploring the genetic background of normal facial variation to dissect disease expressivity, using achondroplasia as a model.

以软骨发育不全为模型，探索正常面部变异的遗传背景，以剖析疾病的表现力。

• 批准号: 486257
• 负责人: Tran Kristen
• 金额: $ 1.27万
• 依托单位: University of Calgary
• 依托单位国家: 加拿大
• 项目类别: Studentship Programs
• 财政年份: 2022
• 资助国家: 加拿大
• 起止时间: 2022-12-01 至 2023-12-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=486257&lang=en
• 关键词: Achondroplasia; Bone And Cartilage; Congenital Disease; Craniofacial Morphology; Developmental Biology; Disease Expressivity; Fibroblast Growth Factor Receptor 3; Genetic Disease; Genetics; Geometric Morphometrics

Nearly 50% of patients with symptoms of genetic disease remain undiagnosed, hindering the appropriate management of disease. Craniofacial morphology is indicative of many genetic disorders and often contributes to diagnosis; for instance, achondroplasia i

近 50% 有遗传病症状的患者仍未得到诊断，这阻碍了疾病的适当管理。颅面形态可以提示许多遗传性疾病，并且通常有助于诊断；例如，软骨发育不全 i