Associated Papers
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech E et al.
Frontiers in Molecular Biosciences, 2022
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
Aortic dilation in Sotos syndrome: An underestimated feature?
Pezzani L et al.
American Journal of Medical Genetics. Part A, 2020
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
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P et al.
Human Mutation, 2007
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