Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

We report about the partial de novo loss of GLRB and GRIA2 in an individual with intellectual disability (ID). No additional mutations were found in either gene. GLRB itself does not seem to be a good candidate as it causes autosomal recessive hyperekplexia and no symptoms were found in the patient....

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Bibliografski detalji
Glavni autori: Hackmann, Karl, Matko, Sarah, Gerlach, Eva-Maria, von der Hagen, Maja, Klink, Barbara, Schrock, Evelin, Rump, Andreas, Di Donato, Nataliya
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2013
Teme:
Short Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3522202/
https://ncbi.nlm.nih.gov/pubmed/22669415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.97
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