Article
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2015
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
Abstract excerpt
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 published before 2014. We also examined three locally available cohorts to identify new adults with 15q13.3 deletions....
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