Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature

The GRIN2B (glutamate receptor, ionotropic, N-methyl-d-aspartate 2B) gene, located in the short arm of chromosome 12, encoding the NR2B subunit of the N-methyl-D-aspartate receptor, has recently been recognized to play an important role in corticogenesis and brain plasticity. Deletions in the short...

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Detalles Bibliográficos
Autores principales: Mishra, Navin, Kouzmitcheva, Elizabeth, Orsino, Angela, Minassian, Berge A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417284/
https://www.ncbi.nlm.nih.gov/pubmed/28503605
http://dx.doi.org/10.1177/2329048X16629980

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417284/
https://www.ncbi.nlm.nih.gov/pubmed/28503605
http://dx.doi.org/10.1177/2329048X16629980

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