Associated Papers
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome identified by whole-exome sequencing (WES): a case report from a developing country.
Joma R et al.
Oxford Medical Case Reports, 2025
Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation.
Ali ZA et al.
Frontiers in Immunology, 2025
Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.
Toubiana S et al.
Human Molecular Genetics, 2018
Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells.
Huang K et al.
Human Molecular Genetics, 2014
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
Velasco G et al.
Orphanet Journal of Rare Diseases, 2014
24742017 (PubMed )
Supplement: 1750-1172-9-56-S2.pdf
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Weemaes CM et al.
European Journal of Human Genetics : Ejhg, 2013
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
Hagleitner MM et al.
Journal of Medical Genetics, 2008
The gene mutations and subtelomeric DNA methylation in immunodeficiency, centromeric instability and facial anomalies syndrome.
Hu H et al.
Autoimmunity, 0
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