Infantile hypotonia as a presentation of Rett syndrome (Q50309363)

2 March 2018

title

Infantile hypotonia as a presentation of Rett syndrome (English)

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2 March 2018

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Heidi A Heilstedt

1

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2 March 2018

Mona D Shahbazian

series ordinal

2

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2 March 2018

Brendan Lee

series ordinal

3

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2 March 2018

publication date

1 August 2002

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2 March 2018

American Journal of Medical Genetics Part A

published in

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2 March 2018

volume

111

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issue

3

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2 March 2018

page(s)

238-242

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2 March 2018

Rett syndrome. A commonly overlooked progressive encephalopathy in girls

cites work

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https://api.crossref.org/works/10.1002%2FAJMG.10633

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

Rett syndrome: a mitochondrial disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

Rett syndrome and the MECP2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

Functional consequences of Rett syndrome mutations on human MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

Preserved speech variants of the Rett syndrome: molecular and clinical analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10633

21 January 2018

Identifiers

DOI

10.1002/AJMG.10633

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2 March 2018

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2 March 2018