p.R270X MECP2 mutation and mortality in Rett syndrome (Q57297413)

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5 January 2020

title

p.R270X MECP2 mutation and mortality in Rett syndrome (English)

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1

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5 January 2020

Nicholas de Klerk

5

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John Christodoulou

6

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Mark E. S. Bailey

7

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Helen Leonard

9

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author name string

Hayley L Archer

2

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5 January 2020

David Ravine

3

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Alison Kerr

4

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Crystal Laurvick

8

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publication date

1 November 2005

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European Journal of Human Genetics

5 January 2020

published in

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volume

13

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issue

11

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page(s)

1235-1238

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

5 January 2020

cites work

1 reference

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

21 January 2018

1 reference

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Rett syndrome: the complex nature of a monogenic disease

21 January 2018

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Refining the phenotype of common mutations in Rett syndrome.

21 January 2018

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Rett syndrome: a surprising result of mutation in MECP2.

21 January 2018

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Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

21 January 2018

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Describing the phenotype in Rett syndrome using a population database

21 January 2018

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Three decades of sociomedical experiences from West Swedish Rett females 4-60 years of age.

21 January 2018

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Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

21 January 2018

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Genotype and early development in Rett syndrome: the value of international data

21 January 2018

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Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype

21 January 2018

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Chronic daily headaches in pediatric neurology practice

21 January 2018

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InterRett--The application of bioinformatics to International Rett syndrome research.

21 January 2018

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Rett syndrome in adolescent and adult females: clinical and molecular genetic findings

21 January 2018

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7 January 2021

Predictive value of the early clinical signs in Rett disorder

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201479

7 January 2021

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome

1 reference

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7 January 2021

MeCP2 mutations in children with and without the phenotype of Rett syndrome

1 reference

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7 January 2021

Looking from the inside out: a parent's perspective

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201479

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5 January 2020

1 reference