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A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.
Mäkitie, R E; Pekkinen, M; Morisada, N; Kobayashi, D; Yonezawa, Y; Nishimura, G; Ikegawa, S; Mäkitie, O.
Afiliación
  • Mäkitie RE; Folkhälsan Institute of Genetics, University of Helsinki, P.O. Box 63, FIN-00014, Helsinki, Finland. riikka.makitie@helsinki.fi.
  • Pekkinen M; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland. riikka.makitie@helsinki.fi.
  • Morisada N; Department of Otorhinolaryngology Head and Neck Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland. riikka.makitie@helsinki.fi.
  • Kobayashi D; Folkhälsan Institute of Genetics, University of Helsinki, P.O. Box 63, FIN-00014, Helsinki, Finland.
  • Yonezawa Y; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
  • Nishimura G; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Hyogo, Japan.
  • Ikegawa S; Department of Orthopaedic Surgery, Hyogo Prefectural Kobe Children's Hospital, Kobe, Hyogo, Japan.
  • Mäkitie O; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences,, Yokohama, Japan.
Calcif Tissue Int ; 109(6): 626-632, 2021 12.
Article en En | MEDLINE | ID: mdl-34156493
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Osteoporosis Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Calcif Tissue Int Año: 2021 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Osteoporosis Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Humans Idioma: En Revista: Calcif Tissue Int Año: 2021 Tipo del documento: Article País de afiliación: Finlandia Pais de publicación: Estados Unidos