CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family

CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family

Abstract Background Intellectual disability (ID) significantly impacts individual development and imposes a societal burden. Although mild ID accounts for approximately 85% of total cases, research into its genetic etiology remains relatively limited. We investigated a two-generation pedigree exhibi...

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Bibliographic Details
Main Authors: Haiting Liu, Xiaoyong Liu, Ximin Chen, Yangmei Pu, Wen Liu, Zemin Luo, Ai Chen, Hui Zhu, Fu Xiong, Lan Zeng, Jin Wang, Xiaocheng Nie, Shuyao Zhu
Format: Article
Language:English
Published: BMC 2025-08-01
Series:BMC Medical Genomics
Subjects:
CUX1
9p deletion
Intellectual disability
Exome sequencing
Online Access:https://doi.org/10.1186/s12920-025-02203-7
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