Meins, M

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