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Updated: Jul 13, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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在SMARCA1中,致病变体会导致由NURF复杂组成调节的X链接神经发育障碍

David Picketts1, Ghayda Mirzaa2, Keqin Yan1

  • 1Ottawa Hospital Research Institute.

Research square
|October 16, 2023
PubMed
概括

在SMARCA1的致病变体导致一种新的神经发育障碍 (NDD),其特点是智力障碍和言语迟缓. 这一发现突出了NURF复杂性的发现.

关键词:
在 NURF 综合体中.在SMARCA1的标志上.大脑过度生长大脑过度生长表观遗传学是指表观遗传学.外基因组测序是指外基因组的测序.

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