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Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy
Chromosomal abnormalities are often identified in people with neurodevelopmental disorders including intellectual disability, autism, and epilepsy. Ring chromosomes, which usually involve gene copy number loss, are formed by fusion of subtelomeric or telomeric chromosomal regions. Some ring chromoso...
Tallennettuna:
| Julkaisussa: | Mol Syndromol |
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| Päätekijät: | , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
S. Karger AG
2017
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5803681/ https://ncbi.nlm.nih.gov/pubmed/29456482 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000479949 |
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