DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

  title={DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.},
  author={Yun Liang Jiang and Muriel Rigolet and D{\'e}borah Bourc'his and Fabienne Nigon and Işik Bokesoy and J P Fryns and Maj Hult{\'e}n and Philippe Jonveaux and Paola Maraschio and Andr{\'e} M{\'e}garban{\'e} and Anne Moncla and Evani M Viegas-P{\'e}quignot},
  journal={Human mutation},
  volume={25 1},
ICF syndrome is a rare autosomal recessive disease characterized by variable immunodeficiency, centromeric instability, and facial abnormalities. Mutations in the catalytic domain of DNMT3B, a gene encoding a de novo DNA methyltransferase, have been recognized in a subset of patients. ICF syndrome is a genetic disease directly related to a genomic methylation defect that mainly affects classical satellites 2 and 3, both components of constitutive heterochromatin. The variable incidence of… CONTINUE READING
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