Associated Papers
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Calcagni G et al.
Diagnostics (basel, Switzerland), 2024
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.
Masunaga Y et al.
Endocrine Journal, 2024
Electrical Status Epilepticus during Sleep in a Male Filipino with Rare Nonsense Mutation Variant of Sotos Syndrome on Carbamazepine Monotherapy.
Lappay JI et al.
Acta Medica Philippina, 2024
NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.
Romero VI et al.
Bmc Genomics, 2022
36550402 (PubMed )
Supplement: 12864_2022_9071_MOESM2_ESM.xlsx › Sup_Table_1
Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.
Lee WS et al.
Scientific Reports, 2021
34545149 (PubMed )
Supplement: 41598_2021_98084_MOESM2_ESM.xlsx › Nonsynonymous_SNV_All_YUHS
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
NSD1 mutations generate a genome-wide DNA methylation signature.
Choufani S et al.
Nature Communications, 2015
26690673 (PubMed )
Supplement: ncomms10207-s6.xlsx › Suppl._Data_5
NSD1 mutations in Sotos syndrome.
Faravelli F
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2005
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Tatton-Brown K et al.
American Journal of Human 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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