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Heritable metabolic bone disorders: a guide to current genetic testing and clinical management for adult endocrinologists.

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第一作者： Shejil,Kumar

第一单位： Department of Endocrinology, Royal North Shore Hospital, Sydney, NSW, Australia; Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, NSW Australia; Northern Clinical School, Faculty of Medicine & Health, University of Sydney, Sydney, NSW Australia; Department of Endocrinology, Westmead Hospital, Sydney, NSW, Australia. Electronic address: shejil.kumar@health.nsw.gov.au.

作者： Shejil,Kumar ^[1] ; Emma L,Duncan ^[2] ; Lisa,Hayes ^[3] ; Yemima,Berman ^[4] ; Roderick J,Clifton-Bligh ^[5] ; Sunita M C,De Sousa ^[6]

作者单位： Department of Endocrinology, Royal North Shore Hospital, Sydney, NSW, Australia; Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, NSW Australia; Northern Clinical School, Faculty of Medicine & Health, University of Sydney, Sydney, NSW Australia; Department of Endocrinology, Westmead Hospital, Sydney, NSW, Australia. Electronic address: shejil.kumar@health.nsw.gov.au. ^[1] Department of Twin Research and Genetic Epidemiology, School of Life Course & Population Sciences, King's College London, London, UK; Department of Endocrinology, Guy's and St Thomas' NHS Foundation Trust, London, UK. ^[2] Department of Diabetes & Endocrinology, Princess Alexandria Hospital, Brisbane, Qld, Australia. ^[3] Northern Clinical School, Faculty of Medicine & Health, University of Sydney, Sydney, NSW Australia; Department of Clinical Genetics, Kolling Institute, Northern Sydney Local Health District, Sydney, NSW, Australia. ^[4] Department of Endocrinology, Royal North Shore Hospital, Sydney, NSW, Australia; Kolling Institute of Medical Research, Royal North Shore Hospital, Sydney, NSW Australia; Northern Clinical School, Faculty of Medicine & Health, University of Sydney, Sydney, NSW Australia. ^[5] Endocrine & Metabolic Unit, Royal Adelaide Hospital, Adelaide, SA, Australia; South Australian Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia. ^[6]

关键词 X-linked hypophosphataemia endocrinologist genetic testing genetics heritable metabolic bone disorder hypophosphatasia management osteogenesis imperfecta

医学主题词人类(Humans);基因检测(Genetic Testing);低磷酸酯酶症(Hypophosphatasia);成骨不全(Osteogenesis Imperfecta);成年人(Adult);骨疾病, 代谢性(Bone Diseases, Metabolic)

DOI 10.1016/j.pathol.2025.12.001

PMID 41558912

发布时间 2026-02-12

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