Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

PURPOSE: Recurrent 15q13.3 deletions are enriched in multiple neurodevelopmental conditions including intellectual disability, autism, epilepsy, and schizophrenia. However, the 15q13.3 microdeletion syndrome remains ill-defined. METHODS: We systematically compiled all cases of 15q13.3 deletion publi...

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Pubblicato in:Genet Med
Autori principali: Lowther, Chelsea, Costain, Gregory, Stavropoulos, Dimitri J., Melvin, Rebecca, Silversides, Candice K., Andrade, Danielle M., So, Joyce, Faghfoury, Hanna, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4464824/
https://ncbi.nlm.nih.gov/pubmed/25077648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.83
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