Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

@inproceedings{Velasco2014GermlineGH,
  title={Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology},
  author={Guillaume Velasco and Emma L. Walton and Delphine Sterlin and Sabrine H{\'e}douin and Hirohisa Nitta and Yuya Ito and Fanny Fouyssac and Andr{\'e} M{\'e}garban{\'e} and Hiroyuki Sasaki and Capucine Picard and Claire Francastel},
  booktitle={Orphanet journal of rare diseases},
  year={2014}
}
BACKGROUND Immunodeficiency Centromeric Instability and Facial anomalies (ICF) is a rare autosomal recessive disease characterized by reduction in serum immunoglobulins with severe recurrent infections, facial dysmorphism, and more variable symptoms including mental retardation. ICF is directly related to a genomic methylation defect that mainly affects juxtacentromeric heterochromatin regions of certain chromosomes, leading to chromosomal rearrangements that constitute a hallmark of this… CONTINUE READING
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