摘要
Clinical GeneticsVolume 89, Issue 4 p. 517-519 LETTER TO THE EDITOR Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta S. Moosa, S. Moosa Institute of Human Genetics, University of Cologne, Cologne, Germany Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, GermanySearch for more papers by this authorB. H.-Y. Chung, B. H.-Y. Chung Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorJ. Y.-L. Tung, J. Y.-L. Tung Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorJ. Altmüller, J. Altmüller Institute of Human Genetics, University of Cologne, Cologne, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorH. Thiele, H. Thiele Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorP. Nürnberg, P. Nürnberg Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorC. Netzer, C. Netzer Institute of Human Genetics, University of Cologne, Cologne, GermanySearch 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 authorB. Wollnik, Corresponding Author B. Wollnik Institute of Human Genetics, University of Cologne, Cologne, Germany Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany Corresponding author: Prof. Bernd Wollnik, MD, Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany. Tel.: +49 551 39 7590; Fax: +49 551 39 9303; e-mail: bwollnik@uni-koeln.deSearch for more papers by this author S. Moosa, S. Moosa Institute of Human Genetics, University of Cologne, Cologne, Germany Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, GermanySearch for more papers by this authorB. H.-Y. Chung, B. H.-Y. Chung Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorJ. Y.-L. Tung, J. Y.-L. Tung Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, ChinaSearch for more papers by this authorJ. Altmüller, J. Altmüller Institute of Human Genetics, University of Cologne, Cologne, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorH. Thiele, H. Thiele Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorP. Nürnberg, P. Nürnberg Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, GermanySearch for more papers by this authorC. Netzer, C. Netzer Institute of Human Genetics, University of Cologne, Cologne, GermanySearch 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 authorB. Wollnik, Corresponding Author B. Wollnik Institute of Human Genetics, University of Cologne, Cologne, Germany Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany Corresponding author: Prof. Bernd Wollnik, MD, Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany. Tel.: +49 551 39 7590; Fax: +49 551 39 9303; e-mail: bwollnik@uni-koeln.deSearch for more papers by this author First published: 14 October 2015 https://doi.org/10.1111/cge.12678Citations: 14 The authors declare no conflict of interest. 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