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16p11.2删除的学龄儿童的发展里程碑和认知轨迹

Jente Verbesselt1,2,3, Jeroen Breckpot4,5, Inge Zink6,7

  • 1Department of Human Genetics, Catholic University Leuven, Leuven, Belgium. verbesselj@chop.edu.

Journal of neurodevelopmental disorders
|June 19, 2025
PubMed
概括

患有16p11.2删除综合征 (16p11.2DS) 的儿童随着时间的推移经历发育延迟和认知功能下降. 早期诊断和量身定制的干预措施对于管理这种神经发育障碍至关重要.

关键词:
16p11.2 删除综合征认知能力 认知能力 认知能力副本编号变体的变体深度表型化 (deep phenotyping) 是一种深度表型化.发展轨迹的发展轨迹早期发展 早期发展

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