Associated Papers
NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.
Conteduca G et al.
Life (basel, Switzerland), 2022
35888078 (PubMed )
Supplement: life-12-00988-s001.zip › life-1766636-supplementary.pdf
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
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N et al.
Human Mutation, 2003
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