Učitavanje...
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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| Izdano u: | Mol Genet Genomic Med |
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| Glavni autori: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2017
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5902391/ https://ncbi.nlm.nih.gov/pubmed/29271071 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.352 |
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