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Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).

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Title: Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).
Authors: Saito-Hakoda A; Department of Pediatrics, JR Sendai Hospital, 1-1-5, Itsutsubashi, Aoba-ku, Sendai, Miyagi, 980-8508, Japan. akos@mub.biglobe.ne.jp.; Department of Pediatrics, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan. akos@mub.biglobe.ne.jp., Kikuchi A; Department of Pediatrics, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Takahashi T; Department of Orthopaedic Surgery, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Yokoyama Y; Department of Ophthalmology, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Himori N; Department of Ophthalmology, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.; Department of Aging Vision Healthcare, Tohoku University Graduate School of Biomedical Engineering, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Adachi M; Department of Otolaryngology-Head and Neck Surgery, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Ikeda R; Department of Otolaryngology-Head and Neck Surgery, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Nomura Y; Department of Otorhinolaryngology, Senen Rifu Hospital, 2-2-108, Aobadai, Rifu-chō, Miyagi-gun, Miyagi, 981-0133, Japan., Takayama J; Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan.; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, 1-4-1, Nihonbashi, Chuo-ku, Tokyo, 103-0027, Japan., Kawashima J; Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan., Katsuoka F; Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan.; Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan., Fujishima F; Department of Pathology, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Yamaguchi T; Department of Pathology, Dokkyo Medical University Nikko Medical Center, 632, Takatoku, Nikko, Tochigi, 321-2593, Japan., Ito A; Division of Advanced Prosthetic Dentistry, Tohoku University Graduate School of Dentistry, 4-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8575, Japan., Hanita T; Department of Pediatrics, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Kanno J; Department of Pediatrics, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Aizawa T; Department of Orthopaedic Surgery, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Nakazawa T; Department of Ophthalmology, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Kawase T; Department of Otolaryngology-Head and Neck Surgery, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan., Tamiya G; Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan.; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, 1-4-1, Nihonbashi, Chuo-ku, Tokyo, 103-0027, Japan., Yamamoto M; Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan.; Department of Medical Biochemistry, Tohoku University Graduate School of Medicine, 2-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8573, Japan., Fujiwara I; Department of Pediatrics, Sendai City Hospital, 1-1-1, Asutonagamachi, Taihaku-ku, Sendai, Miyagi, 982-8502, Japan., Kure S; Department of Pediatrics, Tohoku University Hospital, 1-1, Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.; Miyagi Children's Hospital, 4-3-17, Ochiai, Aoba-ku, Sendai, Miyagi, 989-3126, Japan.
Source: Journal of bone and mineral metabolism [J Bone Miner Metab] 2023 Mar; Vol. 41 (2), pp. 193-202. Date of Electronic Publication: 2022 Dec 15.
Publication Type: Review; Journal Article
Journal Info: Publisher: Japanese Society of Bone and Mineral Metabolism Country of Publication: Japan NLM ID: 9436705 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-5604 (Electronic) Linking ISSN: 09148779 NLM ISO Abbreviation: J Bone Miner Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1435-5604
DOI:10.1007/s00774-022-01392-w