Identification of a Pathogenic <i>RECQL4</i> 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
Authors
- Joonhong Park (ORCID: https://orcid.org/0000-0001-7354-4234)
- Yun Sil Chang (ORCID: https://orcid.org/0000-0001-9201-2938)
- Mi‐Ae Jang (ORCID: https://orcid.org/0000-0002-6558-5236)
- Misun Yang (ORCID: https://orcid.org/0000-0003-1634-6623)
- Jin Kyu Kim (ORCID: https://orcid.org/0000-0002-3502-7604)
- Go Hun Seo (ORCID: https://orcid.org/0000-0003-1518-1791)
- Ja‐Hyun Jang (ORCID: https://orcid.org/0000-0003-0516-4947)
- Hyun Ho Kim (ORCID: https://orcid.org/0000-0002-7379-6041)
Institutions
- Samsung Medical Center (KR)
- Seoul Medical Center (KR)
- Jeonbuk National University Hospital (KR)
- The Catholic University of Korea Seoul St. Mary's Hospital (KR)
- Jeonbuk National University (KR)
- Sungkyunkwan University (KR)
- Catholic University of Korea (KR)
Publication Details
- Journal
- Annals of Laboratory Medicine
- Published
- 2026-08-18
- DOI
- https://doi.org/10.3343/alm.2026.0102
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00