Associated Papers
The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single-Center Experience.
Viswanathan A et al.
American Journal of Medical Genetics. Part A, 2025
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Castro MAA et al.
American Journal of Medical Genetics. Part A, 2021
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K et al.
American Journal of Medical Genetics. Part A, 2019
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
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
Pohjola P et al.
Genetic Testing and Molecular Biomarkers, 2012
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