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Updated: Jun 21, 2025

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综合EHMT1变异分析扩大了基因型-表型关联和Kleefstra综合征中的分子机制

Dmitrijs Rots1, Arianne Bouman2, Ayumi Yamada3

  • 1Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.

American journal of human genetics
|July 16, 2024
PubMed
概括

克莱夫斯特拉综合征 (KLEFS1),是由EHMT1变异引起的,具有比以前已知的更广泛的谱. 特定的EHMT1变异类型与独特的DNA甲基化特征和较温和的表型相关.

关键词:
通过DNA甲基化.在EHMT1中,这就是H3K9的原因.克莱夫斯特拉综合征是什么意思NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD NDD神经发育障碍 神经发育障碍

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