Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. [electronic resource]
- Journal of medical genetics Feb 2005
- e12 p. digital
Publication Type: Case Reports; Letter
1468-6244
10.1136/jmg.2004.023804 doi
Child Chromosomes, Human, X Female Gene Dosage Gene Duplication Gene Expression Humans In Situ Hybridization, Fluorescence Male Methyl-CpG-Binding Protein 2--genetics Pedigree Rett Syndrome--diagnosis