Cargando…
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...
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: | |
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 |
Ejemplares similares
-
An investigation of ribosomal protein L10 gene in autism spectrum disorders
por: Gong, Xiaohong, et al.
Publicado: (2009) -
High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters
por: Chaste, Pauline, et al.
Publicado: (2012) -
Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders
por: Hofvander, Björn, et al.
Publicado: (2009) -
Heterozygous FA2H mutations in autism spectrum disorders
por: Scheid, Isabelle, et al.
Publicado: (2013) -
Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls
por: Delorme, Richard, et al.
Publicado: (2010)