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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2013
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| Assuntos: | |
| Acesso em linha: | 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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