Associated Papers
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
A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.
Ruhrman-Shahar N et al.
American Journal of Medical Genetics. Part A, 2022
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
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