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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2017
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| 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 |