Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome

Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. We attempted to correlate genotype and phenotype to see if there are significant clinical associations.

Source: Brain and Development - April 22, 2020 Category: Neurology Authors: Mari Wold Henriksen, Hilde Breck, Yngve Sejersted, Trond Diseth, Stephen von Tetzchner, Benedicte Paus, Ola H. Skjeldal Tags: Original article Source Type: research