De novo substitutions of TRPM3 cause intellectual disability and epilepsy

The developmental and epileptic encephalopathies (DEE) are a heterogeneous group of chronic encephalopathies frequently associated with rare de novo nonsynonymous coding variants in neuronally expressed genes. Here, we describe eight probands with a DEE phenotype comprising intellectual disability,...

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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Dyment, David A., Terhal, Paulien A., Rustad, Cecilie F., Tveten, Kristian, Griffith, Christopher, Jayakar, Parul, Shinawi, Marwan, Ellingwood, Sara, Smith, Rosemarie, van Gassen, Koen, McWalter, Kirsty, Innes, A. Micheil, Lines, Matthew A.
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2019
Matèries:
Brief Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777445/
https://ncbi.nlm.nih.gov/pubmed/31278393
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0462-x
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