• gene
  • For instance, recurrent 400kb inversion in factor VIII gene is a common cause of haemophilia A, and smaller inversions affecting idunorate 2-sulphatase (IDS) will cause Hunter syndrome. (wikipedia.org)
  • Rett syndrome and Fragile X syndrome (FXS) are single gene disorders related to ASD with overlapping symptoms that include deficient neurological development, impaired language and communication, difficulties in social interactions, and stereotyped hand gestures. (wikipedia.org)
  • Rett syndrome is caused by a mutation in the gene that encodes methyl-CpG-binding protein (MECP2), one of the key epigenetic regulators of gene expression. (wikipedia.org)