Article
Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.
American journal of medical genetics. Part A - 1 Jul 2023
Siracusano Martina, Riccioni Assia, Frattale Ilaria, Arturi Lucrezia, Dante Caterina, Galasso Cinzia, Gialloreti Leonardo Emberti, Conteduca Giuseppina, Testa Barbara, Malacarne Michela, Coviello Domenico, Mazzone Luigi
Abstract excerpt
Sotos syndrome (SoS) is a congenital overgrowth syndrome with variable degree of intellectual disability caused in the 90% of cases by pathogenetic variants of the Nuclear receptor binding SET Domain protein1 (NSD1) gene. NSD1 gene functions can be abrogated by different genetic alterations (i.e., small intragenic pathogenic variants like deletions/insertions, nonsense/missense pathogenic variants, partial gene...
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