(Q54467155)

30 May 2018

title

Genotype-phenotype correlation in Brazillian Rett syndrome patients. (English)

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30 May 2018

genotype-phenotype correlation

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2

Decio Brunoni

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author name string

Fernanda T de Lima

1

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José Salomão Schwartzman

3

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Maria Cristina Pozzi

4

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Fernando Kok

5

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Yara Juliano

6

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Lygia da Veiga Pereira

7

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publication date

1 September 2009

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Arquivos de Neuro-Psiquiatria

published in

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volume

67

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issue

3A

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page(s)

577-584

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30 May 2018

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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Rett syndrome: new clinical and molecular insights.

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Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation

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Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.

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MECP2 mutations account for most cases of typical forms of Rett syndrome.

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Rett syndrome in Spain: mutation analysis and clinical correlations.

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Functional consequences of Rett syndrome mutations on human MeCP2.

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Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome

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10.1590/S0004-282X2009000400001

21 January 2018

Identifiers

DOI

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30 May 2018

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30 May 2018