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The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes

Deletion of the 16p11.2 CNV affects 25 core genes and is associated with multiple symptoms affecting brain and body, including seizures, hyperactivity, macrocephaly, and obesity. Available data suggest that most symptoms are controlled by haploinsufficiency of two or more 16p11.2 genes. To identify...

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Detalles Bibliográficos
Autores principales: McCammon, Jasmine M., Blaker-Lee, Alicia, Chen, Xiao, Sive, Hazel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886277/
https://www.ncbi.nlm.nih.gov/pubmed/28934389
http://dx.doi.org/10.1093/hmg/ddx255