Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.
Meins
M
M
Lehmann
J
J
Gerresheim
F
F
Herchenbach
J
J
Hagedorn
M
M
Hameister
K
K
Epplen
J T
JT
D002648:Child; D041321:Chromosomes, Human, X; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D015870:Gene Expression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D015518:Rett Syndrome / Q000175:diagnosis* / Q000235:genetics*
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2