Article
Subcellular distribution of HP1 proteins is altered in ICF syndrome.
European journal of human genetics : EJHG - 1 Jan 2005
Luciani Judith J, Depetris Danielle, Missirian Chantal, Mignon-Ravix Cécile, Metzler-Guillemain Catherine, Megarbane André, Moncla Anne, Mattei Marie-Geneviève
Abstract excerpt
The Immunodeficiency, Centromeric instability, and Facial (ICF) syndrome is a rare autosomal recessive disorder that results from mutations in the DNMT3B gene, encoding a DNA-methyltransferase that acts on GC-rich satellite DNAs. This syndrome is characterized by immunodeficiency, facial dysmorph...
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