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Genome Med. 2017 Feb 17;9(1):17. doi: 10.1186/s13073-017-0411-7.

MeCP2 mutations: progress towards understanding and treating Rett syndrome.

Author information

1
Wellcome Trust Centre for Cell Biology, University of Edinburgh, Max Born Crescent, Edinburgh, EH16 5DS, UK.
2
Wellcome Trust Centre for Cell Biology, University of Edinburgh, Max Born Crescent, Edinburgh, EH16 5DS, UK. a.bird@ed.ac.uk.

Abstract

Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain.

PMID:
28212680
PMCID:
PMC5316219
DOI:
10.1186/s13073-017-0411-7
[Indexed for MEDLINE]
Free PMC Article

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