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Developmental Trajectories in ARID1B-Related Disorders - a Multi-Method Multi-Site Prospective Natural History Study

Developmental Trajectories in ARID1B-Related Disorders - a Multi-Method Multi-Site Prospective Natural History Study
ARID1B 相关疾病的发育轨迹 - 多方法多地点前瞻性自然历史研究
批准号：
486840
负责人：
Campeau Philippe M
金额：
$32.0万
依托单位：
Centre hospitalier universitaire Sainte-Justine (Montral, Qubec)
依托单位国家：
加拿大
项目类别：
Operating Grants
财政年份：
2023
资助国家：
加拿大
项目状态：
未结题
起止时间：
2023-06-01 至 2026-06-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=486840&lang=en
关键词：
Arid1b-Related Diseases Coffin-Siris Syndrome Epigenetic Diseases Natural History Study Neurodevelopmental Disorders

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中文摘要
翻译
ARID 1B是最常见的突变单基因神经发育障碍（NDD），其发病率约为9，500人中的1人。ARID 1B相关疾病（ARID 1B-RD）在儿童早期表现为中度至重度，
英文摘要
ARID1B is the most frequently mutated single gene neurodevelopmental disorders (NDDs) that are not inhertied, with an approximated prevalence of one in 9,500 individuals. ARID1B-related disorder (ARID1B-RD) manifests in early childhood as moderate to seve
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