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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Hofstaetter+JG%22">Hofstaetter JG</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Atkins+GJ%22">Atkins GJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kato+H%22">Kato H</searchLink>; Division of Nephrology and Endocrinology, The University of Tokyo Hospital, Tokyo, Japan.; Osteoporosis Center, The University of Tokyo Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Kogawa+M%22">Kogawa M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Blouin+S%22">Blouin S</searchLink>; 1st Medical Dept., Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Misof+BM%22">Misof BM</searchLink>; 1st Medical Dept., Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Roschger+P%22">Roschger P</searchLink>; 1st Medical Dept., Hanusch Hospital, Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA Trauma Centre Meidling, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Evdokiou+A%22">Evdokiou A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Yang+D%22">Yang D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Solomon+LB%22">Solomon LB</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Findlay+DM%22">Findlay DM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ito+N%22">Ito N</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%227905481%22">Calcified tissue international</searchLink> [Calcif Tissue Int] 2022 Oct; Vol. 111 (4), pp. 430-444. <i>Date of Electronic Publication: </i>2022 May 26.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7905481 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-0827 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%220171967X%22">0171967X </searchLink><i>NLM ISO Abbreviation: </i>Calcif Tissue Int <i>Subsets: </i>MEDLINE
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