Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.

Journal of medical genetics

Volumn 42, Issue 2, 2005, Pages

  Meins, M ^a   Lehmann, J ^a   Gerresheim, F ^a   Herchenbach, J ^a   Hagedorn, M ^a   Hameister, K ^a   Epplen, J T ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

MECP2 PROTEIN, HUMAN; METHYL CPG BINDING PROTEIN 2;

CASE REPORT; CHILD; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION; GENETICS; HUMAN; LETTER; MALE; METABOLISM; PEDIGREE; RETT SYNDROME; X CHROMOSOME;

CHILD; CHROMOSOMES, HUMAN, X; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; METHYL-CPG-BINDING PROTEIN 2; PEDIGREE; RETT SYNDROME;

EID: 23944509593     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.023804     Document Type: Letter

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