A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy

BACKGROUND: Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation. Mutations in EMC1 gene have recently been reported. Herein, we describe a proband born of a consanguineous marriage, who presented with early infantile onset epilepsy...

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Detalles Bibliográficos
Autores principales: Geetha, Thenral S., Lingappa, Lokesh, Jain, Abhishek Ravindra, Govindan, Hridya, Mandloi, Nitin, Murugan, Sakthivel, Gupta, Ravi, Vedam, Ramprasad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902391/
https://www.ncbi.nlm.nih.gov/pubmed/29271071
http://dx.doi.org/10.1002/mgg3.352

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902391/
https://www.ncbi.nlm.nih.gov/pubmed/29271071
http://dx.doi.org/10.1002/mgg3.352

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