%0 Journal Article
%T Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome
%A Marie-Elisabeth Brun
%A Erica Lana
%A Isabelle Rivals
%A G¨¦rard Lefranc
%A Pierre Sarda
%A Mireille Claustres
%A Andr¨¦ M¨¦garban¨¦
%A Albertina De Sario
%J PLOS ONE
%D 2012
%I Public Library of Science (PLoS)
%R 10.1371/journal.pone.0019464
%X Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) syndrome is a rare autosomal recessive disorder that is characterized by a marked immunodeficiency, severe hypomethylation of the classical satellites 2 and 3 associated with disruption of constitutive heterochromatin, and facial anomalies. Sixty percent of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de novo DNA methyltransferase.
%U http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0019464