A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.
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| Title: | A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene. |
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| Authors: | Hofstaetter JG; 1st Medical Dept., Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, Vienna, Austria.; Michael Ogon Laboratory, Orthopaedic Hospital Vienna-Speising, Vienna, Austria., Atkins GJ; Centre for Orthopaedic & Trauma Research, Faculty of Health and Medical Sciences, Adelaide Health and Medical Sciences Building, The University of Adelaide, North Terrace, Adelaide, SA, 5005, Australia. gerald.atkins@adelaide.edu.au., Kato H; Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan.; Osteoporosis Center, The University of Tokyo Hospital, Tokyo, Japan., Kogawa M; Centre for Orthopaedic & Trauma Research, Faculty of Health and Medical Sciences, Adelaide Health and Medical Sciences Building, The University of Adelaide, North Terrace, Adelaide, SA, 5005, Australia., Blouin S; 1st Medical Dept., Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, Vienna, Austria., Misof BM; 1st Medical Dept., Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, Vienna, Austria., Roschger P; 1st Medical Dept., Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, Vienna, Austria., Evdokiou A; Centre for Orthopaedic & Trauma Research, Faculty of Health and Medical Sciences, Adelaide Health and Medical Sciences Building, The University of Adelaide, North Terrace, Adelaide, SA, 5005, Australia., Yang D; Centre for Orthopaedic & Trauma Research, Faculty of Health and Medical Sciences, Adelaide Health and Medical Sciences Building, The University of Adelaide, North Terrace, Adelaide, SA, 5005, Australia., Solomon LB; Centre for Orthopaedic & Trauma Research, Faculty of Health and Medical Sciences, Adelaide Health and Medical Sciences Building, The University of Adelaide, North Terrace, Adelaide, SA, 5005, Australia.; Department of Orthopaedics and Trauma, Royal Adelaide Hospital, Adelaide, SA, 5000, Australia., Findlay DM; Centre for Orthopaedic & Trauma Research, Faculty of Health and Medical Sciences, Adelaide Health and Medical Sciences Building, The University of Adelaide, North Terrace, Adelaide, SA, 5005, Australia., Ito N; Centre for Orthopaedic & Trauma Research, Faculty of Health and Medical Sciences, Adelaide Health and Medical Sciences Building, The University of Adelaide, North Terrace, Adelaide, SA, 5005, Australia.; Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan.; Osteoporosis Center, The University of Tokyo Hospital, Tokyo, Japan. |
| Source: | Calcified tissue international [Calcif Tissue Int] 2022 Oct; Vol. 111 (4), pp. 430-444. Date of Electronic Publication: 2022 May 26. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: United States NLM ID: 7905481 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0827 (Electronic) Linking ISSN: 0171967X NLM ISO Abbreviation: Calcif Tissue Int Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1432-0827 |
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| DOI: | 10.1007/s00223-022-00988-8 |
