<i>KDM6B</i> Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency

<i>KDM6B</i> Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency

(1) Background: The genetic etiology of most patients with cerebral folate deficiency (CFD) remains poorly understood. <i>KDM6B</i> variants were reported to cause neurodevelopmental diseases; however, the association between <i>KDM6B</i> and CFD is unknown; (2) Methods: Exom...

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Bibliographic Details
Main Authors: Xiao Han, Xuanye Cao, Robert M. Cabrera, Paula Andrea Pimienta Ramirez, Cuilian Zhang, Vincent T. Ramaekers, Richard H. Finnell, Yunping Lei
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Biology
Subjects:
KDM6B
cerebral folate deficiency
FOLR1
H3K27me2
H3K27Ac
Online Access:https://www.mdpi.com/2079-7737/12/1/74

Internet

https://www.mdpi.com/2079-7737/12/1/74

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