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Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.
Xue, Jing-Yi; Simsek-Kiper, Pelin O; Utine, Gulen Eda; Yan, Li; Wang, Zheng; Taskiran, Ekim Z; Karaosmanoglu, Beren; Imren, Gozde; Gocmen, Rahsan; Nishimura, Gen; Matsumoto, Naomichi; Miyake, Noriko; Ikegawa, Shiro; Guo, Long.
Afiliação
  • Xue JY; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Simsek-Kiper PO; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Yan L; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Wang Z; Department of Neurology, China-Japan Friendship Hospital, Beijing, People's Republic of China.
  • Taskiran EZ; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Karaosmanoglu B; Department of Medical Genetics, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
  • Imren G; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Gocmen R; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Nishimura G; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Matsumoto N; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Miyake N; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
  • Ikegawa S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Guo L; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
J Hum Genet ; 66(6): 607-611, 2021 Jun.
Article em En | MEDLINE | ID: mdl-33402699

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteosclerose / Receptor Ativador de Fator Nuclear kappa-B / Hematopoese Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteosclerose / Receptor Ativador de Fator Nuclear kappa-B / Hematopoese Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão