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Alteration in the expression of methyl-CpG-binding protein 2 (MeCP2) has been linked to a number of neurological disorders, including Rett syndrome (RTT). A recent modifier screen in flies has ...
The discovery that the FOXG1 gene plays a role in both transcriptional regulation and protein translation raises important questions about the evolution of this complex mechanism. There are ...
[The results] eerily resembled some disorders that I had studied indirectly,” said Soo-Kyung Lee. Humans heterozygous for FOXG1 pathogenic variants, which typically arise from de novo mutations, ...
MECP2 mutations are the major genetic mutation associated with Rett syndrome. Diagnosis is made via observable features, which include regression of developmental features, including language and ...
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