Article
Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome.
Epigenetics - 1 Jul 2010
Gatto Sole, Della Ragione Floriana, Cimmino Amelia, Strazzullo Maria, Fabbri Muller, Mutarelli Margherita, Ferraro Lorenzo, Weisz Alessandro, D'Esposito Maurizio, Matarazzo Maria R
Abstract excerpt
Immunodeficiency, Centromeric region instability, Facial anomalies (ICF; OMIM #242860) syndrome, due to mutations in the DNMT3B gene, is characterized by inheritance of aberrant patterns of DNA methylation and heterochromatin defects. Patients show variable agammaglobulinemia and a reduced number of T cells, making them prone to infections and death before adulthood. Other variable symptoms include facial...
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