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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.
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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  Data: Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
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  Data: <searchLink fieldCode="AU" term="%22Batkovskyte+D%22">Batkovskyte D</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22McKenzie+F%22">McKenzie F</searchLink>; Genetic Services of Western Australia, Perth, Australia.; School of Pediatrics and Child Health, University of Western Australia, Perth, Australia.<br /><searchLink fieldCode="AU" term="%22Taylan+F%22">Taylan F</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Simsek-Kiper+PO%22">Simsek-Kiper PO</searchLink>; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Nikkel+SM%22">Nikkel SM</searchLink>; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, Canada.; University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Ohashi+H%22">Ohashi H</searchLink>; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Stevenson+RE%22">Stevenson RE</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Ha+T%22">Ha T</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cavalcanti+DP%22">Cavalcanti DP</searchLink>; Skeletal Dysplasias Group, Department of Translational Medicine, Medical Genetics, University of Campinas (UNICAMP), Campinas, Brazil.<br /><searchLink fieldCode="AU" term="%22Miyahara+H%22">Miyahara H</searchLink>; Division of Neonatology, Kawaguchi City Medical Center, Kawaguchi, Japan.<br /><searchLink fieldCode="AU" term="%22Skinner+SA%22">Skinner SA</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Aguirre+MA%22">Aguirre MA</searchLink>; Centro Nacional de Genética Médica (CENAGEM), A.N.L.I.S 'Dr. Carlos G. Malbrán', Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Akçören+Z%22">Akçören Z</searchLink>; Division of Pediatric Pathology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Utine+GE%22">Utine GE</searchLink>; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Chiu+T%22">Chiu T</searchLink>; CHEO Genetics Clinic, Regional Genetics Program, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Shimizu+K%22">Shimizu K</searchLink>; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Hammarsjö+A%22">Hammarsjö A</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Boduroglu+K%22">Boduroglu K</searchLink>; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Moore+HW%22">Moore HW</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Louie+RJ%22">Louie RJ</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Arts+P%22">Arts P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Merrihew+AN%22">Merrihew AN</searchLink>; Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Babic+M%22">Babic M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jackson+MR%22">Jackson MR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Papadogiannakis+N%22">Papadogiannakis N</searchLink>; Department of Laboratory Medicine, Division of Pathology, Karolinska Institutet, Department of Pathology, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Lindstrand+A%22">Lindstrand A</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Nordgren+A%22">Nordgren A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Barnett+CP%22">Barnett CP</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Scott+HS%22">Scott HS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chagin+AS%22">Chagin AS</searchLink>; Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.; Institute of Medicine, Gothenburg University, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Nishimura+G%22">Nishimura G</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Grigelioniene+G%22">Grigelioniene G</searchLink>; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
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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>8610640 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1523-4681 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208840431%22">08840431 </searchLink><i>NLM ISO Abbreviation: </i>J Bone Miner Res <i>Subsets: </i>MEDLINE
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