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Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

Germline mutations in PTEN, the gene that encodes phosphatase and tensin homolog, have been identified in up to 20% of children with autism spectrum disorder (ASD) and macrocephaly and are associated with marked abnormalities in the white matter of the brain. This study sought to characterize the ne...

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Detalles Bibliográficos
Autores principales: Busch, Robyn M., Srivastava, Siddharth, Hogue, Olivia, Frazier, Thomas W., Klaas, Patricia, Hardan, Antonio, Martinez-Agosto, Julian A., Sahin, Mustafa, Eng, Charis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6783427/
https://www.ncbi.nlm.nih.gov/pubmed/31594918
http://dx.doi.org/10.1038/s41398-019-0588-1