Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.

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Title: Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.
Authors: Muurinen M; Research Program for Clinical and Molecular Metabolism University of Helsinki Helsinki Finland.; Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland.; Folkhälsan Research Center Helsinki Finland., Taylan F; Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm.; Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden., Tournis S; Laboratory for the Research of Musculoskeletal System 'Th. Garofalidis,' Medical School National and Kapodistrian University of Athens, KAT Hospital Athens Greece., Eisfeldt J; Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm.; Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden., Balanika A; Department of Computed Tomography Asklepeion Voulas Hospital Athens Greece., Vastardis H; Department of Orthodontics, School of Dentistry National and Kapodistrian University of Athens Athens Greece., Ala-Mello S; Department of Clinical Genetics Helsinki University Hospital Helsinki Finland., Mäkitie O; Research Program for Clinical and Molecular Metabolism University of Helsinki Helsinki Finland.; Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland.; Folkhälsan Research Center Helsinki Finland.; Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm.; Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden., Costantini A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm.
Source: JBMR plus [JBMR Plus] 2022 Jul 05; Vol. 6 (8), pp. e10660. Date of Electronic Publication: 2022 Jul 05 (Print Publication: 2022).
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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ISSN:2473-4039
DOI:10.1002/jbm4.10660