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Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome

The 15q13.3 microdeletion is a recurrent CNV, presumably mediated by NAHR between segmental duplications in chromosome 15. The 15q13.3 deletion and duplication are associated with a wide range of clinical manifestations, such as intellectual deficits, seizures, autism, language and developmental del...

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書目詳細資料
發表在:Mol Syndromol
Main Authors: Hassfurther, Ariane, Komini, Eleni, Fischer, Judith, Leipoldt, Michael
格式: Artigo
語言:Inglês
出版: S. Karger AG 2016
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4772713/
https://ncbi.nlm.nih.gov/pubmed/26997942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000443343
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