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Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4.

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第一作者： Elena F,Evans

第一单位： Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.

作者： Elena F,Evans ^[1] ; Woo Young,Chung ^[2] ; Aileen M,Barnes ^[1] ; Elena,Makareeva ^[3] ; Sara,Talvacchio ^[4] ; Ava Movahed,Abtahi ^[2] ; Lisa M,Jenkins ^[5] ; Sergey,Leikin ^[3] ; Shmuel,Muallem ^[2] ; Joan C,Marini ^[1]

作者单位： Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States. ^[1] Epithelial Signaling and Transport Section, National Institute of Dental Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States. ^[2] Section on Physical Biochemistry, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States. ^[3] Office of the Clinical Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States. ^[4] Mass Spectrometry Section, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States. ^[5]

关键词 COL1A2 TRPV4 osteogenesis imperfecta skeletal dysplasia splicing

DOI 10.1093/jbmrpl/ziaf111

PMID 40808990

发布时间 2025-08-16

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Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both <i>COL1A2</i> and <i>TRPV4</i>.

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Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both <i>COL1A2</i> and <i>TRPV4</i>.

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