RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.827802
Abstract: Background Sotos syndrome is an autosomal dominant disorder characterized by overgrowth, macrocephaly, distinctive facial features and learning disabilities. Haploinsufficiency of the nuclear receptor SET domain-containing protein 1 (NSD1) gene located on chromosome 5q35 is the… read more here.
Keywords: splice; nsd1 gene; variant; analysis ... See more keywords
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14020295
Abstract: Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the NSD1 (nuclear receptor binding SET domain containing protein 1) gene. No clinical diagnostic consensus criteria are published yet, and molecular analysis reduces the… read more here.
Keywords: nsd1 gene; molecular analysis; analysis reclassification; gene ... See more keywords