Work

Biallelic GSPT1 variants are associated with a syndromic neurodevelopmental disorder characterized by intellectual disability and microcephaly

Year: 2026

Type: article

Source: Journal of genetics and genomics/Journal of Genetics and Genomics

DOI: 10.1016/j.jgg.2026.02.019

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

Institutions: Linyi People's Hospital, Guangzhou University of Chinese Medicine

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Natural Science Foundation of China, China Postdoctoral Science Foundation, Natural Science Foundation of Shandong Province

Awards: G1392659961, G2217958194, G3202846787, G4925465915, G659133829

OpenAlex ID: W7133234793

FWCI:

Cites: 17

Cited by:

Related to: 10