Disruption of Diacylglycerol Kinase Delta (DGKD) Associated with Seizures in Humans and Mice

We report a female patient with a de novo balanced translocation, 46,X,t(X;2)(p11.2;q37)dn, who exhibits seizures, capillary abnormality, developmental delay, infantile hypotonia, and obesity. The 2q37 breakpoint observed in association with the seizure phenotype is of particular interest, because i...

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Autores principales: Leach, Natalia T., Sun, Yi, Michaud, Sebastien, Zheng, Yi, Ligon, Keith L., Ligon, Azra H., Sander, Thomas, Korf, Bruce R., Lu, Weining, Harris, David J., Gusella, James F., Maas, Richard L., Quade, Bradley J., Cole, Andrew J., Kelz, Max B., Morton, Cynthia C.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2007
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1852716/
https://ncbi.nlm.nih.gov/pubmed/17357084
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