A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability

A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability

Abstract Objectives The SOX5 gene has been identified as the pathogenic gene responsible for Lamb-Shaffer syndrome. In this study, we examined the SOX5 variant (c.221C > T, p.Thr74Met) within a Chinese family presenting with intellectual disability and evaluated the functional implications of SOX...

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Main Authors: Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Fu Xiong
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Intellectual disability
SOX5
C.221C > T
Bioinformatics prediction
Protein stability
Down-regulate
Online Access:https://doi.org/10.1186/s13023-025-03548-z
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https://doi.org/10.1186/s13023-025-03548-z

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