Osteogenesis Imperfecta with a gross deletion including the COL1A1 gene, induced by Alu-driven microhomology-mediated end joining.

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Title: Osteogenesis Imperfecta with a gross deletion including the COL1A1 gene, induced by Alu-driven microhomology-mediated end joining.
Authors: Yamamoto K; Laboratory of Children's health and Genetics, Division of Health Sciences, The University of Osaka Graduate School of Medicine, Yamadaoka 1-7, Suita, 565-0871, Japan.; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan., Nakayama H; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan.; Department of Oral and Maxillofacial Surgery, The University of Osaka Graduate School of Dentistry, Yamadaoka 1-8, Suita, 565-0871, Japan., Ito Y; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan., Hattori M; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan., Shimada T; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan., Ueda I; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan., Ishimi T; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan., Yamada C; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan., Nakano Y; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan., Fujiwara M; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan., Kubota T; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan.; Department of Pediatric Nephrology and Metabolism, Osaka Women's and Children's Hospital, Osaka Prefecture Hospital Organization, Murodocho 840, Izumi, 594-1101, Japan., Ohata Y; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan., Kitabatake Y; Department of Pediatrics, The University of Osaka Graduate School of Medicine, Yamadaoka 2-2, Suita, 565-0871, Japan.
Source: Bone reports [Bone Rep] 2026 Jan 26; Vol. 28, pp. 101901. Date of Electronic Publication: 2026 Jan 26 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101646176 Publication Model: eCollection Cited Medium: Print ISSN: 2352-1872 (Print) Linking ISSN: 23521872 NLM ISO Abbreviation: Bone Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2352-1872
DOI:10.1016/j.bonr.2026.101901