RettBASE: Rett syndrome database update-Reference-Cited by-同舟云学术

RettBASE: Rett syndrome database update

Published:2017-06-09 Issue:8 Volume:38 Page:922-931
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Krishnaraj Rahul¹,Ho Gladys¹²,Christodoulou John¹²³⁴

Affiliation:

1. NSW Centre for Rett Syndrome ResearchWestern Sydney Genetics ProgramChildren's Hospital at Westmead Sydney Australia

2. Disciplines of Child and AdolescentChild Health, University of Sydney Sydney Australia

3. Genetic MedicineSydney Medical SchoolUniversity of Sydney Sydney Australia

4. Neurodevelopmental Genomics Research GroupMurdoch Childrens Research Institute and Department of PaediatricsMelbourne Medical SchoolUniversity of Melbourne Melbourne Australia

Funder

International Rett Syndrome Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23263

Reference41 articles.

1. A method and server for predicting damaging missense mutations

2. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

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

4. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

5. Classic rett syndrome in a boy as a result of somatic mosaicism for amecp2mutation

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