Associated Papers
Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos Syndrome carrying c.1633delA NSD1 variant in exon 5.
Conteduca G et al.
Stem Cell Research, 2024
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome.
Testa B et al.
Genes, 2023
36833222 (PubMed )
Supplement: genes-14-00295-s001.zip › genes-2134420-supplementary.pdf
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
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