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Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L

Microcephaly and macrocephaly are overrepresented in individuals with autism and are thought to be disease-related risk factors or endophenotypes. Analysis of DNA microarray results from a family with a low functioning autistic child determined that the proband and two additional unaffected family m...

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Detalles Bibliográficos
Autores principales: Nebel, Rebecca A., Kirschen, Jill, Cai, Jinlu, Woo, Young Jae, Cherian, Koshi, Abrahams, Brett S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468215/
https://www.ncbi.nlm.nih.gov/pubmed/26076356
http://dx.doi.org/10.1371/journal.pone.0129270