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首页> Hormone research in paediatrics> High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2.

High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2.

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作者： Lara E,Graves ^[1] ; Christie-Lee,Wall ^[2] ; Julie N,Briody ^[3] ; Bruce,Bennetts ^[4] ; Karen,Wong ^[5] ; Ella,Onikul ^[6] ; Andrew,Biggin ^[4] ; Craig F,Munns ^[7]

作者单位： Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Westmead, New South Wales, Australia, lara.graves@health.nsw.gov.au. ^[1] Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Westmead, New South Wales, Australia. ^[2] Department of Nuclear Medicine, The Children's Hospital at Westmead, Westmead, New South Wales, Australia. ^[3] Molecular Genetics Department, Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, New South Wales, Australia. ^[4] Discipline of Genomic Medicine, Children's Hospital at Westmead Clinical School, Westmead, New South Wales, Australia. ^[5] Discipline of Child and Adolescent Health, Children's Hospital at Westmead Clinical School, Westmead, New South Wales, Australia. ^[6] Department of Medical Imaging, The Children's Hospital at Westmead, Westmead, New South Wales, Australia. ^[7]

关键词 COL1A2 Fractures High bone mineral density Osteogenesis imperfecta

主题词青少年(Adolescent);氨基酸取代(Amino Acid Substitution);骨密度(Bone Density);胶原Ⅰ型(Collagen Type I);家庭(Family);女(雌)性(Female);人类(Humans);男(雄)性(Male);突变, 误义(Mutation, Missense);成骨不全(Osteogenesis Imperfecta);系谱(Pedigree)

DOI 10.1159/000510463

PMID 32920552

发布时间 2021-08-13

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Hormone research in paediatrics

Hormone research in paediatrics

2020年93卷4期

263-271页

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Hormone research in paediatrics

2020年93卷4期

263-271页

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