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Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly

Kai Liu Yuda Wei Yanyan Hu Xingzhu Geng Xiaxia Liu Hongyan Xu Yikai Miao Yongzhen Xue Chunhai Gao Xiangyu Zhao

Kai Liu, Yuda Wei, Yanyan Hu, Xingzhu Geng, Xiaxia Liu, Hongyan Xu, Yikai Miao, Yongzhen Xue, Chunhai Gao, Xiangyu Zhao. Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly[J]. 遗传学报. doi: 10.1016/j.jgg.2026.02.019
引用本文: Kai Liu, Yuda Wei, Yanyan Hu, Xingzhu Geng, Xiaxia Liu, Hongyan Xu, Yikai Miao, Yongzhen Xue, Chunhai Gao, Xiangyu Zhao. Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly[J]. 遗传学报. doi: 10.1016/j.jgg.2026.02.019
Kai Liu, Yuda Wei, Yanyan Hu, Xingzhu Geng, Xiaxia Liu, Hongyan Xu, Yikai Miao, Yongzhen Xue, Chunhai Gao, Xiangyu Zhao. Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly[J]. Journal of Genetics and Genomics. doi: 10.1016/j.jgg.2026.02.019
Citation: Kai Liu, Yuda Wei, Yanyan Hu, Xingzhu Geng, Xiaxia Liu, Hongyan Xu, Yikai Miao, Yongzhen Xue, Chunhai Gao, Xiangyu Zhao. Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly[J]. Journal of Genetics and Genomics. doi: 10.1016/j.jgg.2026.02.019

Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly

doi: 10.1016/j.jgg.2026.02.019
基金项目: 

China Postdoctoral Science Foundation (2024M751889)

and Taishan Scholar Young Expert Program of Shandong Province (tsqn202507393).

We sincerely thank the family for their participation and support in this study. This work was supported by the National Natural Science Foundation of China (82402155, 32200629)

Natural Science Foundation of Shandong Province (ZR2021QC196, ZR2021QH268)

详细信息
    通讯作者:

    Yongzhen Xue,E-mail:744765552@qq.com

    Chunhai Gao,E-mail:gchunhai@126.com

    Xiangyu Zhao,E-mail:xiangyuzhao@126.com

Bi-allelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly

Funds: 

China Postdoctoral Science Foundation (2024M751889)

and Taishan Scholar Young Expert Program of Shandong Province (tsqn202507393).

We sincerely thank the family for their participation and support in this study. This work was supported by the National Natural Science Foundation of China (82402155, 32200629)

Natural Science Foundation of Shandong Province (ZR2021QC196, ZR2021QH268)

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出版历程
  • 收稿日期:  2025-05-23
  • 录用日期:  2026-02-24
  • 修回日期:  2026-02-11
  • 网络出版日期:  2026-03-04

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