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
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study.
Oyler HO et al.
Clinical Genetics, 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
Clinical delineation of SETBP1 haploinsufficiency disorder.
Jansen NA et al.
European Journal of Human Genetics : Ejhg, 2021
Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Morgan A et al.
European Journal of Human Genetics : Ejhg, 2021
Select a paper to view details