Associated Papers
Childhood motor speech disorders: who to prioritise for genetic testing.
Van Niel H et al.
European Journal of Human Genetics : Ejhg, 2026
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 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
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