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Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.
Chinn, Ivan K; Sanders, Robert P; Stray-Pedersen, Asbjørg; Coban-Akdemir, Zeynep H; Kim, Vy Hong-Diep; Dadi, Harjit; Roifman, Chaim M; Quigg, Troy; Lupski, James R; Orange, Jordan S; Hanson, I Celine.
Afiliação
  • Chinn IK; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Sanders RP; Section of Immunology, Allergy, and Rheumatology, Texas Children's Hospital, Houston, TX, USA.
  • Stray-Pedersen A; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX, USA.
  • Coban-Akdemir ZH; Texas Transplant Institute, Methodist Hospital, San Antonio, TX, USA.
  • Kim VH; Norwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Dadi H; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Roifman CM; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA.
  • Quigg T; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Orange JS; Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Hanson IC; Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Front Immunol ; 8: 576, 2017.
Article em En | MEDLINE | ID: mdl-28603521

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2017 Tipo de documento: Article