Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
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| Title: | Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders. |
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| Authors: | Batkovskyte D; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden., McKenzie F; Genetic Services of Western Australia, Perth, Australia.; School of Pediatrics and Child Health, University of Western Australia, Perth, Australia., Taylan F; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Simsek-Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Nikkel SM; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, Canada.; University of British Columbia, Vancouver, Canada., Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA., Ha T; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Cavalcanti DP; Skeletal Dysplasias Group, Department of Translational Medicine, Medical Genetics, University of Campinas (UNICAMP), Campinas, Brazil., Miyahara H; Division of Neonatology, Kawaguchi City Medical Center, Kawaguchi, Japan., Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA., Aguirre MA; Centro Nacional de Genética Médica (CENAGEM), A.N.L.I.S 'Dr. Carlos G. Malbrán', Buenos Aires, Argentina., Akçören Z; Division of Pediatric Pathology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Chiu T; CHEO Genetics Clinic, Regional Genetics Program, Ottawa, Canada., Shimizu K; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan., Hammarsjö A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Boduroglu K; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Moore HW; Greenwood Genetic Center, Greenwood, SC, USA., Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA., Arts P; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia., Merrihew AN; Greenwood Genetic Center, Greenwood, SC, USA., Babic M; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia., Jackson MR; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Australian Genomics Health Alliance, Melbourne, Australia., Papadogiannakis N; Department of Laboratory Medicine, Division of Pathology, Karolinska Institutet, Department of Pathology, Karolinska University Hospital, Stockholm, Sweden., Lindstrand A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden., Barnett CP; Pediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, Australia.; Adelaide Medical School of Medicine, University of Adelaide, Adelaide, Australia., Scott HS; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.; Adelaide Medical School of Medicine, University of Adelaide, Adelaide, Australia., Chagin AS; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.; Institute of Medicine, Gothenburg University, Gothenburg, Sweden., Nishimura G; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan., Grigelioniene G; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. |
| Source: | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2023 May; Vol. 38 (5), pp. 692-706. Date of Electronic Publication: 2023 Mar 27. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1523-4681 |
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| DOI: | 10.1002/jbmr.4799 |
