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. |
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| 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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