Article
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
American journal of human genetics - 1 Aug 2005
Tatton-Brown Katrina, Douglas Jenny, Coleman Kim, Baujat Genevieve, Cole Trevor R P, Das Soma, Horn Denise, Hughes Helen E, Temple I Karen, Faravelli Francesca, Waggoner Darrel, Turkmen Seval, Cormier-Daire Valerie, Irrthum Alexandre, Rahman Nazneen
Abstract excerpt
We identified 266 individuals with intragenic NSD1 mutations or 5q35 microdeletions encompassing NSD1 (referred to as "NSD1-positive individuals"), through analyses of 530 subjects with diverse phenotypes. Truncating NSD1 mutations occurred throughout the gene, but pathogenic missense mutations occurred only in functional domains (P < 2 x 10(-16)). Sotos syndrome was clinically diagnosed in 99% of NSD1-positive...
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