Associated Papers
Prenatal diagnosis of intellectual disability, autosomal dominant 29 with a nonsense pathogenic variant in SETBP1: a case report and literature review.
Wei Z et al.
Frontiers in Genetics, 2025
40144891 (PubMed )
Supplement: Table1.xlsx › cases
Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.
Shaw NC et al.
Molecular Autism, 2024
Novel SETBP1 mutation in a chinese family with intellectual disability.
Wang L et al.
Bmc Medical Genomics, 2023
37798664 (PubMed )
Supplement: 12920_2023_1649_MOESM1_ESM.xlsx › Table_3_overall_data
Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Morgan A et al.
European Journal of Human Genetics : Ejhg, 2021
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