Associated Papers
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human Genetics, 2017
28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
Ha K et al.
Genes, 2016
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Waggoner DJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
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