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

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Title: Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4.
Authors: Evans EF; 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., Chung WY; Epithelial Signaling and Transport Section, National Institute of Dental Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States., Barnes AM; 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., Makareeva E; Section on Physical Biochemistry, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States., Talvacchio S; 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., Abtahi AM; Epithelial Signaling and Transport Section, National Institute of Dental Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States., Jenkins LM; Mass Spectrometry Section, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States., Leikin S; Section on Physical Biochemistry, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States., Muallem S; Epithelial Signaling and Transport Section, National Institute of Dental Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States., Marini JC; 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.
Source: JBMR plus [JBMR Plus] 2025 Jul 22; Vol. 9 (9), pp. ziaf111. Date of Electronic Publication: 2025 Jul 22 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4.
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  Data: <searchLink fieldCode="AU" term="%22Evans+EF%22">Evans EF</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chung+WY%22">Chung WY</searchLink>; Epithelial Signaling and Transport Section, National Institute of Dental Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Barnes+AM%22">Barnes AM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Makareeva+E%22">Makareeva E</searchLink>; Section on Physical Biochemistry, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Talvacchio+S%22">Talvacchio S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Abtahi+AM%22">Abtahi AM</searchLink>; Epithelial Signaling and Transport Section, National Institute of Dental Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Jenkins+LM%22">Jenkins LM</searchLink>; Mass Spectrometry Section, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Leikin+S%22">Leikin S</searchLink>; Section on Physical Biochemistry, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Muallem+S%22">Muallem S</searchLink>; Epithelial Signaling and Transport Section, National Institute of Dental Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Marini+JC%22">Marini JC</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101707013%22">JBMR plus</searchLink> [JBMR Plus] 2025 Jul 22; Vol. 9 (9), pp. ziaf111. <i>Date of Electronic Publication: </i>2025 Jul 22 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101707013 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2473-4039 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2224734039%22">24734039 </searchLink><i>NLM ISO Abbreviation: </i>JBMR Plus <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1093/jbmrpl/ziaf111
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              Text: 2025 Jul 22
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