Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys

Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys

As a component of the ubiquitin ligase complex, Cullin 4B (CUL4B) is involved in the process of ubiquitination of different substrates, controlling genome stability, nucleotide excision repair, and chromatin-remodeling. The mutations in the CUL4B gene are revealed to be a cause of Cabezas syndrome (...

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Bibliographic Details
Main Authors: Li Lin, Qi Yang, Shujie Zhang, Xunzhao Zhou, Xiaoling Li, Sheng Yi, Qiang Zhang, Shang Yi, Sheng He, Zailong Qin, Jingsi Luo
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Neuroscience
Subjects:
CUL4B
Cabezas syndrome
intellectual disability
developmental delay
seizures
novel variant
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2025.1600852/full
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