Article
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases.
Human mutation - 1 Jul 2018
Townend Gillian S, Ehrhart Friederike, van Kranen Henk J, Wilkinson Mark, Jacobsen Annika, Roos Marco, Willighagen Egon L, van Enckevort David, Evelo Chris T, Curfs Leopold M G
Abstract excerpt
Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological problems. In most cases, it results from a loss-of-function mutation in the gene encoding methyl-CPG-binding protein 2 (MECP2). Currently, about 900 unique MECP2 variations (benign and pathogenic) have been identified and it is suspected that the different mutations contribute to different levels of disease severity. For researchers...
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