Associated Papers
In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.
Roark CM et al.
Clinical and Experimental Immunology, 2025
Case report: Novel multi-exon homozygous deletion of ZBTB24 causes immunodeficiency, centromeric instability, and facial anomalies syndrome 2.
Long Y et al.
Frontiers in Immunology, 2025
39958354 (PubMed )
Supplement: DataSheet2.pdf
Chromatin remodeling in replication-uncoupled maintenance DNA methylation and chromosome stability: Insights from ICF syndrome studies.
Unoki M
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2021
Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation.
Aktar S et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
Nitta H et al.
Journal of Human Genetics, 2013
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
de Greef JC et al.
American Journal of Human Genetics, 2011
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