Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

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 occu...

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Main Authors: Tatton-Brown, Katrina, Douglas, Jenny, Coleman, Kim, Baujat, Geneviève, Cole, Trevor R. P., Das, Soma, Horn, Denise, Hughes, Helen E., Temple, I. Karen, Faravelli, Francesca, Waggoner, Darrel, Türkmen, Seval, Cormier-Daire, Valérie, Irrthum, Alexandre, Rahman, Nazneen
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2005
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1224542/
https://ncbi.nlm.nih.gov/pubmed/15942875
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