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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Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2248565/
https://www.ncbi.nlm.nih.gov/pubmed/18001468
http://dx.doi.org/10.1186/1471-2350-8-68

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2248565/
https://www.ncbi.nlm.nih.gov/pubmed/18001468
http://dx.doi.org/10.1186/1471-2350-8-68

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