Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient

Different mutations in glutamate receptor ionotropic delta 2 (GRID2) gene cause cerebellar ataxia in human. We report the largest homozygous deletion of the GRID2 gene reported to date, most probably causing complete loss of the gene product. Our patient presents mainly early onset cerebellar ataxia...

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Detalles Bibliográficos
Autores principales: Taghdiri, Maryam, Kashef, Atie, Abbassi, Golemaryam, Moshtagh, Azadeh, Sadatian, Neda, Fardaei, Majid, Najafi, Kimia, Kariminejad, Roxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552953/
https://www.ncbi.nlm.nih.gov/pubmed/31183084
http://dx.doi.org/10.1002/ccr3.2020

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