Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

BACKGROUND: Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the NSD1 gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism...

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Detalhes bibliográficos
Main Authors: Buxbaum, Joseph D, Cai, Guiqing, Nygren, Gudrun, Chaste, Pauline, Delorme, Richard, Goldsmith, Juliet, Råstam, Maria, Silverman, Jeremy M, Hollander, Eric, Gillberg, Christopher, Leboyer, Marion, Betancur, Catalina
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2007
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2248565/
https://ncbi.nlm.nih.gov/pubmed/18001468
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-8-68
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