Open AccessNeurologic Features with Pathogenic Copy Number Variants
Author(s) -
Jason Coryell
Publication year - 2020
Publication title -
pediatric neurology briefs
Language(s) - English
Resource type - Journals
eISSN - 2166-6482
pISSN - 1043-3155
DOI - 10.15844/pedneurbriefs-34-20
Subject(s) - comparative genomic hybridization , etiology , copy number variation , phenotype , medicine , pediatrics , genetics , bioinformatics , biology , pathology , gene , genome
Investigators from Children’s Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1].