Article
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2017
Lowther Chelsea, Speevak Marsha, Armour Christine M, Goh Elaine S, Graham Gail E, Li Chumei, Zeesman Susan, Nowaczyk Malgorzata J M, Schultz Lee-Anne, Morra Antonella, Nicolson Rob, Bikangaga Peter, Samdup Dawa, Zaazou Mostafa, Boyd Kerry, Jung Jack H, Siu Victoria, Rajguru Manjulata, Goobie Sharan, Tarnopolsky Mark A, Prasad Chitra, Dick Paul T, Hussain Asmaa S, Walinga Margreet, Reijenga Renske G, Gazzellone Matthew, Lionel Anath C, Marshall Christian R, Scherer Stephen W, Stavropoulos Dimitri J, McCready Elizabeth, Bassett Anne S
Abstract excerpt
PURPOSE: The purpose of the current study was to assess the penetrance of NRXN1 deletions. METHODS: We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative penetrance of NRXN1 deletions. RESULTS: We identified...
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