Article

Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes

2016-07-08

Abstract excerpt

Rett syndrome (RTT) is a rare disease but still one of the most abundant causes for intellectual disability in females. Typical symptoms are onset at month 6-18 after normal pre-and postnatal development, loss of acquired skills and severe intellectual disability. The type and severity of symptoms are individually highly different. A single mutation in one gene, coding for methyl-CpG-binding protein 2 (MECP2), is...

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Literature Corpus work: eacd48c6-8997-55cb-ab95-94a54b2188a3
DOI: 10.1101/062786

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