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Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome.
Eren Akarcan, Sanem; Edeer Karaca, Neslihan; Aksu, Guzide; Aykut, Ayca; Yilmaz Karapinar, Deniz; Cetin, Funda; Aydinok, Yesim; Azarsiz, Elif; Gambineri, Eleonora; Cogulu, Ozgur; Ulusoy Severcan, Ezgi; Alper, Hudaver; Kutukculer, Necil.
Afiliação
  • Eren Akarcan S; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Edeer Karaca N; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Aksu G; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Aykut A; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
  • Yilmaz Karapinar D; Department of Pediatric Hematology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Cetin F; Department of Pediatric Gastroenterology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Aydinok Y; Department of Pediatric Hematology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Azarsiz E; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Gambineri E; Department of Hematology-Oncology: Bone Marrow Transplant (BMT) Unit, University of Florence, Department of ''NEUROFARBA'': Section of Child's Health, ''Anna Meyer'' Children's Hospital, Florence, Italy.
  • Cogulu O; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
  • Ulusoy Severcan E; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Alper H; Department of Pediatric Radiology, Ege University Faculty of Medicine, Izmir, Turkey.
  • Kutukculer N; Department of Pediatric Immunology, Ege University Faculty of Medicine, Izmir, Turkey.
JMM Case Rep ; 5(10): e005167, 2018 Oct.
Article em En | MEDLINE | ID: mdl-30479781
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: JMM Case Rep Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Turquia País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: JMM Case Rep Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Turquia País de publicação: Reino Unido