Associated Papers
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
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
Clinical and Immunological Characterization of ICF Syndrome in Japan.
Kamae C et al.
Journal of Clinical Immunology, 2018
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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