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
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.
Sterlin D et al.
Journal of Clinical Immunology, 2016
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
Nitta H et al.
Journal of Human Genetics, 2013
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