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Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole‐exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual unders...
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| 發表在: | Clin Case Rep |
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| Main Authors: | , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4929804/ https://ncbi.nlm.nih.gov/pubmed/27386127 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.591 |
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