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Updated: Jun 21, 2025

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在KMT2C的致病变体导致神经发育障碍不同于Kleefstra和Kabuki综合征

Dmitrijs Rots1, Sanaa Choufani2, Victor Faundes3

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

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

新发现的KMT2C相关的神经发育障碍 (NDD) 呈现出明显的临床和表观遗传特征. 这项研究定义了条件的条件.

关键词:
通过DNA甲基化.在EHMT1中,在KMT2C中,KMT2C是KMT2C.在KMT2D中,KMT2D是KMT2D.卡布基综合征是什么意思克莱夫斯特拉综合征是什么意思神经发育障碍是一种神经发育障碍.

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