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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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
Assuntos:
Brief Communication
Acesso em linha: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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