Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression - 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; et al. (Genetics in medicine, 2017)
Keywords: 631/1647/2017/2079; 631/208/2489; 631/208/457/649; 692/699/375/366; Biomedicine; Calcium-Binding Proteins; Cell Adhesion Molecules, Neuronal - genetics; Child; copy-number variation; DNA Copy Number Variations; Exons - genetics; Female; Genetic Predisposition to Disease; Genotype; genotype–phenotype; Human Genetics; Humans; Introns - genetics; Laboratory Medicine; Male; Microarray Analysis; Nerve Tissue Proteins - genetics; Neural Cell Adhesion Molecules; Neurodevelopmental Disorders - epidemiology; Neurodevelopmental Disorders - genetics; Neurodevelopmental Disorders - physiopathology; NRXN1; original-research-article; Penetrance; Phenotype; Sequence Deletion; variable expression; genotype–phenotype; variable expression; NRXN1; copy-number variation; penetrance