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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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書目詳細資料
發表在:Clin Case Rep
Main Authors: Jones, Kevin, Weiss, Shelly K., Minassian, Berge
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2016
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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