Associated Papers
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Ferilli M et al.
Genes, 2022
NSD1 mutations in Sotos syndrome.
Faravelli F
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Türkmen S et al.
European Journal of Human Genetics : Ejhg, 2003
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