Associated Papers
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc3.pdf
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.
Sterlin D et al.
Journal of Clinical Immunology, 2016
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
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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