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Article

Transcriptome level analysis in Rett syndrome using human samples from different tissues.

Orphanet journal of rare diseases - 11 Jul 2018

Shovlin Stephen, Tropea Daniela

Abstract excerpt

The mechanisms of neuro-genetic disorders have been mostly investigated in the brain, however, for some pathologies, transcriptomic analysis in multiple tissues represent an opportunity and a challenge to understand the consequences of the genetic mutation. This is the case for Rett Syndrome (RTT): a neurodevelopmental disorder predominantly affecting females that is characterised by a loss of purposeful...

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Identifiers

PMID: 29996871
DOI: 10.1186/s13023-018-0857-8
PMCID: PMC6042368

Genes

MECP2

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