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A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers.
Rayzan, Elham; Sadeghalvad, Mona; Shahkarami, Sepideh; Zoghi, Samaneh; Aryan, Zahra; Mahdaviani, Seyed Alireza; Boztug, Kaan; Rezaei, Nima.
Afiliación
  • Rayzan E; International Hematology/Oncology of Pediatrics' Experts (IHOPE), Universal Scientific Education and Research Network (USERN), Boston, MA, USA.
  • Sadeghalvad M; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, , Children's Medical Center Hospital, Tehran University of Medical Science, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.
  • Shahkarami S; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, , Children's Medical Center Hospital, Tehran University of Medical Science, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.
  • Zoghi S; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Aryan Z; Dr. Von Hauner Children's Hospital, Ludwig-Maximilians-University Munich, Munich, Germany.
  • Mahdaviani SA; Medical Genetics Network (MeGeNe), Universal Scientific Education and Research Network (USERN), Munich, Germany.
  • Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
  • Rezaei N; Department of Emergency Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, USA.
J Med Case Rep ; 17(1): 307, 2023 Jul 18.
Article en En | MEDLINE | ID: mdl-37461086
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Inflamatorias del Intestino / Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X Tipo de estudio: Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: J Med Case Rep Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Inflamatorias del Intestino / Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X Tipo de estudio: Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: J Med Case Rep Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos