Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
2014; Wiley; Volume: 87; Issue: 5 Linguagem: Inglês
10.1111/cge.12466
ISSN1399-0004
AutoresEmma Tham, Gen Nishimura, Stefan Geiberger, Eva Horemuzova, Daniel Nilsson, Anna Lindstrand, Anna Hammarsjö, Miriam Armenio, Outi Mäkitie, Bernhard Zabel, Ann Nordgren, Magnus Nordenskjöld, Giedré Grigelioniené,
Tópico(s)Bone Metabolism and Diseases
ResumoClinical GeneticsVolume 87, Issue 5 p. 496-498 LETTER TO THE EDITOR Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia E. Tham, E. Tham Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorG. Nishimura, G. Nishimura Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorS. Geiberger, S. Geiberger Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorE. Horemuzova, E. Horemuzova Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorD. Nilsson, D. Nilsson Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden Science for Life Laboratory, Karolinska Institutet Science Park, Solna, SwedenSearch for more papers by this authorA. Lindstrand, A. Lindstrand Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorA. Hammarsjö, A. Hammarsjö Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorM. Armenio, M. Armenio Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorO. Mäkitie, O. Mäkitie Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, FinlandSearch for more papers by this authorB. Zabel, B. Zabel Pediatric Genetics Division, Centre for Paediatrics and Adolescent Medicine, Freiburg University Hospital, Freiburg, GermanySearch for more papers by this authorA. Nordgren, A. Nordgren Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorM. Nordenskjöld, M. Nordenskjöld Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorG. Grigelioniene, Corresponding Author G. Grigelioniene Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden Correspondence: G. Grigelioniene Department of Clinical Genetics Karolinska University Hospital 17176 Stockholm, Sweden. Tel.: +46 8 51773926 fax: +46 8 327734 e-mail: [email protected]Search for more papers by this author E. Tham, E. Tham Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorG. Nishimura, G. Nishimura Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, JapanSearch for more papers by this authorS. Geiberger, S. Geiberger Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorE. Horemuzova, E. Horemuzova Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden Paediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorD. Nilsson, D. Nilsson Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden Science for Life Laboratory, Karolinska Institutet Science Park, Solna, SwedenSearch for more papers by this authorA. Lindstrand, A. Lindstrand Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorA. Hammarsjö, A. Hammarsjö Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorM. Armenio, M. Armenio Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorO. Mäkitie, O. Mäkitie Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, FinlandSearch for more papers by this authorB. Zabel, B. Zabel Pediatric Genetics Division, Centre for Paediatrics and Adolescent Medicine, Freiburg University Hospital, Freiburg, GermanySearch for more papers by this authorA. Nordgren, A. Nordgren Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorM. Nordenskjöld, M. Nordenskjöld Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, SwedenSearch for more papers by this authorG. Grigelioniene, Corresponding Author G. Grigelioniene Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden Correspondence: G. Grigelioniene Department of Clinical Genetics Karolinska University Hospital 17176 Stockholm, Sweden. Tel.: +46 8 51773926 fax: +46 8 327734 e-mail: [email protected]Search for more papers by this author First published: 25 July 2014 https://doi.org/10.1111/cge.12466Citations: 9Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article.Citing Literature Volume87, Issue5May 2015Pages 496-498 RelatedInformation
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