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
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Abstract
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
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Authors: Mi‐Ae Jang, Ja‐Hyun Jang, Jin Kyu Kim, Joonhong Park, Go Hun Seo, Misun Yang, Yun Sil Chang, Hyun Ho Kim
Institutions: Samsung Medical Center, Catholic University of Korea, Sungkyunkwan University, The Catholic University of Korea Seoul St. Mary's Hospital, Jeonbuk National University, Jeonbuk National University Hospital, Seoul Medical Center