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Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.
Durkin, Anna; DeVile, Catherine; Arundel, Paul; Bull, Mary; Walsh, Jennifer; Bishop, Nicholas J; Hupin, Emilie; Parekh, Susan; Nadarajah, Ramesh; Offiah, Amaka C; Calder, Alistair; Brock, Joanna; Baker, Duncan; Balasubramanian, Meena.
Afiliación
  • Durkin A; The University of Sheffield Medical School, Sheffield, UK.
  • DeVile C; Highly Specialised OI Service, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.
  • Arundel P; Highly Specialised OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Bull M; Metabolic Bone Centre, Northern General Hospital, Sheffield, UK.
  • Walsh J; Metabolic Bone Centre, Northern General Hospital, Sheffield, UK.
  • Bishop NJ; Department of Oncology & Metabolism, The University of Sheffield, Sheffield, UK.
  • Hupin E; Highly Specialised OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Parekh S; Department of Oncology & Metabolism, The University of Sheffield, Sheffield, UK.
  • Nadarajah R; Highly Specialised OI Service, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.
  • Offiah AC; Eastman Dental Institute, University College London, London, UK.
  • Calder A; Highly Specialised OI Service, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.
  • Brock J; Highly Specialised OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Baker D; Department of Oncology & Metabolism, The University of Sheffield, Sheffield, UK.
  • Balasubramanian M; Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
J Med Genet ; 59(8): 810-816, 2022 08.
Article en En | MEDLINE | ID: mdl-34462290
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Escoliosis / Fracturas de la Columna Vertebral / Fracturas por Compresión Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Escoliosis / Fracturas de la Columna Vertebral / Fracturas por Compresión Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido