Associated Papers
Prenatal Diagnosis of Sotos Syndrome: Integrating Chromosomal Microarray Analysis and Exome Sequencing.
Yang X et al.
Prenatal Diagnosis, 2026
Aberrant Fetal Brain Sulcus Formation: A Clue to the Diagnosis of Sotos Syndrome.
Luo C et al.
Prenatal Diagnosis, 2024
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
A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD1 Gene in Familial Sotos Syndrome.
Laccetta G et al.
Frontiers in Pediatrics, 2017
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
Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome.
Donnelly DE et al.
Clinical Dysmorphology, 2011
Select a paper to view details