Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report. - Lee, Hoo Young; Jang, Dae-Hyun; Kim, Jae-Won; Lee, Dong-Woo; Jang, Ja-Hyun; Joo, Joungsu (BMC Medical Genomics, 2021)