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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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Bibliografski detalji
Izdano u:Mol Syndromol
Glavni autori: Hassfurther, Ariane, Komini, Eleni, Fischer, Judith, Leipoldt, Michael
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2016
Teme:
Online pristup: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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