一名希腊成骨不全患者的新COL1A1突变:对低剂量唑来膦酸方案的反应和两年随访

Journal of Research and Practice on the Musculoskeletal System Pub Date : 2018-09-01 DOI:10.22540/jrpms-02-075

Michail Sarantis, P. Kollia, S. Samara, H. Athanasopoulou, Y. Gyftodimou, Dimitra Lianou, Evdoxia Mpourazani, A. Doulgeraki

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引用次数: 1

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Michail Sarantis, Panagoula Kollia, Stavroula Samara, Helen Athanasopoulou, Yolanda Gyftodimou, Dimitra Lianou, Evdoxia Mpourazani, Artemis Doulgeraki 4希腊雅典KAT医院创伤与骨科;雅典国立和卡波迪斯特里亚大学生物学院遗传与生物技术系，希腊雅典;儿童健康研究所骨骼和矿物质代谢学系，希腊雅典;希腊雅典儿童健康研究所临床遗传学系;1希腊雅典“Aghia Sophia”儿童医院儿科

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A new COL1A1 mutation in a Greek patient with osteogenesis imperfecta: Response to a low-dose protocol of zoledronic acid and two-year follow-up

Michail Sarantis, Panagoula Kollia, Stavroula Samara, Helen Athanasopoulou, Yolanda Gyftodimou, Dimitra Lianou, Evdoxia Mpourazani, Artemis Doulgeraki 4 Department of Trauma and Orthopaedics, KAT Hospital, Athens, Greece; Department of Genetics & Biotechnology, Faculty of Biology, National and Kapodistrian University of Athens, Athens, Greece; Department of Bone and Mineral Metabolism, Institute of Child Health, Athens, Greece; Department of Clinical Genetics, Institute of Child Health, Athens, Greece; 1 Department of Pediatrics, “Aghia Sophia” Children’s Hospital, Athens, Greece

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Journal of Research and Practice on the Musculoskeletal System

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