Rare but not forgotten: finding the origins of major defects in KBG syndrome

罕见但未被遗忘：寻找 KBG 综合征主要缺陷的根源

• 批准号: 428901
• 负责人: Kibalnyk Yana
• 金额: $ 1.27万
• 依托单位: University of Alberta
• 依托单位国家: 加拿大
• 项目类别: Studentship Programs
• 财政年份: 2019
• 资助国家: 加拿大
• 起止时间: 2019-12-01 至 2020-12-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=428901&lang=en
• 关键词: Brain; Cardiovascular; Congenital Disease; Development; Epigenetics; Genetic Disease; Kbg Syndrome; Neural Crest; Neurocristopathy; Neurodevelopmental Disease

"KBG syndrome is a rare, underdiagnosed disease with severe multi-organ defects, including the heart and brain. It is caused by a mutation in or deletion of gene <em>ANKRD11</em>, which is responsible for regulating gene expression during development. ANK

“ KBG综合征是一种罕见的，诊断不足的疾病，具有严重的多器官缺陷，包括心脏和大脑。它是由基因或缺失基因<em> ankrd11 </em>的突变引起的，该突变负责调节发育过程中基因表达。