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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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Bibliografische gegevens
Gepubliceerd in:Hum Mol Genet
Hoofdauteurs: McCammon, Jasmine M., Blaker-Lee, Alicia, Chen, Xiao, Sive, Hazel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2017
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886277/
https://ncbi.nlm.nih.gov/pubmed/28934389
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx255
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