Nature Structural & Molecular Biology
It is a disease that is in desperate need of attention. The mechanism through which MSL3 mutations lead to this syndrome is not known. There is only one previous study which discovered this disease gene, but it is not clear why mutations in MSL3 cause this disorder. Mutations in the MSL3 gene can lead to perturbation of genes involved in development. The developmental genes are intact, but the program that determines how thewill be fine-tuned is impaired. This could lead to a global delay in the development of multiple organs, including the brain.
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