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Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy

The clinical use of array comparative genomic hybridization (array CGH) has allowed the identification of very rare deletion and duplication disorders, such as 5q12 deletion syndrome (OMIM 615668) described as a contiguous gene deletion syndrome of chromosome 5q12. Chromosome microdeletions includin...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Gnan, Chiara, Franzoni, Alessandra, Baldan, Federica, Passon, Nadia, Damante, Giuseppe, Dello Russo, Patrizia
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5465700/
https://ncbi.nlm.nih.gov/pubmed/28611550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000454725
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