A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review.
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| Title: | A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review. |
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| Authors: | He D; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China. hehe0917@mail.jnmc.edu.cn.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China. hehe0917@mail.jnmc.edu.cn.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China. hehe0917@mail.jnmc.edu.cn., Luo Y; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China., Wei S; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China., Wang Y; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China., Zhang C; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China., Chen S; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China., Ban B; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Medical Research Center, Affiliated Hospital of Jining Medical University, Jining, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China.; Chinese Research Center for Behavior Medicine in Growth and Development, Jining, PR China., Zhang M; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China.; Chinese Research Center for Behavior Medicine in Growth and Development, Jining, PR China., Li Y; Department of Endocrinology, Genetics and Metabolism, Affiliated Hospital of Jining Medical University, 89 Guhuai Road, Jining, 272029, Shandong, PR China. liyanying510@126.com.; Shandong Provincial Key Medical and Health Laboratory of Growth and Developmental Diseases, Affiliated Hospital of Jining Medical University, Jining, PR China. liyanying510@126.com.; Chinese Research Center for Behavior Medicine in Growth and Development, Jining, PR China. liyanying510@126.com. |
| Source: | Human genomics [Hum Genomics] 2025 Aug 31; Vol. 19 (1), pp. 103. Date of Electronic Publication: 2025 Aug 31. |
| Publication Type: | Case Reports; Journal Article; Review |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1479-7364 |
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| DOI: | 10.1186/s40246-025-00816-8 |
