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The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.

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Title: The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.
Authors: Xue JY; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Wang Z; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.; Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China., Smithson SF; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Burren CP; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.; Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Nishimura G; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan. sikegawa@ims.u-tokyo.ac.jp., Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan. longguo601@gmail.com.
Source: Journal of human genetics [J Hum Genet] 2021 Apr; Vol. 66 (4), pp. 371-377. Date of Electronic Publication: 2020 Oct 09.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.
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  Data: <searchLink fieldCode="AU" term="%22Xue+JY%22">Xue JY</searchLink>; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Wang+Z%22">Wang Z</searchLink>; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.; Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.<br /><searchLink fieldCode="AU" term="%22Smithson+SF%22">Smithson SF</searchLink>; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.; Department of Clinical Genetics, St Michaels Hospital, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Burren+CP%22">Burren CP</searchLink>; Bristol Medical School Translational Health Sciences, University of Bristol, Bristol, UK.; Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Matsumoto+N%22">Matsumoto N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Nishimura+G%22">Nishimura G</searchLink>; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Ikegawa+S%22">Ikegawa S</searchLink>; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan. sikegawa@ims.u-tokyo.ac.jp.<br /><searchLink fieldCode="AU" term="%22Guo+L%22">Guo L</searchLink>; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan. longguo601@gmail.com.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2021 Apr; Vol. 66 (4), pp. 371-377. <i>Date of Electronic Publication: </i>2020 Oct 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1038/s10038-020-00831-8
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              Text: 2021 Apr
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