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High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2.
Graves, Lara E; Wall, Christie-Lee; Briody, Julie N; Bennetts, Bruce; Wong, Karen; Onikul, Ella; Biggin, Andrew; Munns, Craig F.
Afiliación
  • Graves LE; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Westmead, New South Wales, Australia, lara.graves@health.nsw.gov.au.
  • Wall CL; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Briody JN; Department of Nuclear Medicine, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Bennetts B; Molecular Genetics Department, Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Wong K; Discipline of Genomic Medicine, Children's Hospital at Westmead Clinical School, Westmead, New South Wales, Australia.
  • Onikul E; Discipline of Child and Adolescent Health, Children's Hospital at Westmead Clinical School, Westmead, New South Wales, Australia.
  • Biggin A; Molecular Genetics Department, Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Munns CF; Department of Medical Imaging, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Horm Res Paediatr ; 93(4): 263-271, 2020.
Article en En | MEDLINE | ID: mdl-32920552
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Linaje / Familia / Densidad Ósea / Mutación Missense / Colágeno Tipo I Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Horm Res Paediatr Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2020 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Linaje / Familia / Densidad Ósea / Mutación Missense / Colágeno Tipo I Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Horm Res Paediatr Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2020 Tipo del documento: Article