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 ·Vol. 42 ·No. 2 ·2005-02-00 ·Pages e12

Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT

Abstract

暂无摘要

MeSH Terms

Child Chromosomes, Human, X Female Gene Dosage Gene Duplication Gene Expression Humans In Situ Hybridization, Fluorescence Male Methyl-CpG-Binding Protein 2/genetics,metabolism Pedigree Rett Syndrome/diagnosis,genetics

Chemicals

MECP2 protein, human Methyl-CpG-Binding Protein 2

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Meins M

Lehmann J

Gerresheim F

Herchenbach J

Hagedorn M

Hameister K

Epplen J T

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

1468-6244

DOI

10.1136/jmg.2004.023804

Published

2005-02-00

Pages

e12

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1735993

Subset

External Links

PubMed source DOI: 10.1136/jmg.2004.023804 PMC Full Text View journal details

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

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