Seoul Medical Center

Identification of a Pathogenic RECQL4 1.6-kb Deletion–Insertion in a Neonate with Atypical Skeletal Phenotype of Baller–Gerold Syndrome Using Rapid Whole-Genome Sequencing

Mi-Ae Jang, M.D., Ph.D., Ja-Hyun Jang, M.D., Ph.D., Jin Kyu Kim, M.D., Ph.D., Joonhong Park, M.D., Ph.D., Go Hun Seo, M.D., Ph.D., Misun Yang, M.D., Ph.D., Yun Sil Chang, M.D., Ph.D., and Hyun Ho Kim, M.D., Ph.D.. Ann Lab Med -0001;0:. https://doi.org/10.3343/alm.2026.0102