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Unusual dermatological presentation and immune phenotype in SCID due to an IL7R mutation: the value of whole-exome sequencing and the potential benefit of newborn screening.
Marquardt, L; Lacour, M; Hoernes, M; Opitz, L; Lecca, R; Volkmer, B; Reichenbach, J; Hohl, D; Ansari, M; Ozsahin, H; Güngör, T; Pachlopnik Schmid, J.
Afiliación
  • Marquardt L; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
  • Lacour M; Paediatric Practice, Carouge, Switzerland.
  • Hoernes M; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
  • Opitz L; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
  • Lecca R; Functional Genomics Center Zurich, Zurich, Switzerland.
  • Volkmer B; Functional Genomics Center Zurich, Zurich, Switzerland.
  • Reichenbach J; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
  • Hohl D; Division of Immunology, University Children's Hospital Zurich, Zurich, Switzerland.
  • Ansari M; Department of Dermatology, University Hospital of Lausanne, Lausanne, Switzerland.
  • Ozsahin H; Division of Stem Cell Transplantation, University Hospital Geneva, Geneva, Switzerland.
  • Güngör T; Division of Stem Cell Transplantation, University Hospital Geneva, Geneva, Switzerland.
  • Pachlopnik Schmid J; Division of Stem Cell Transplantation, University Children's Hospital Zurich, Zurich, Switzerland.
J Eur Acad Dermatol Venereol ; 31(3): e147-e148, 2017 Mar.
Article en En | MEDLINE | ID: mdl-27593400
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tamizaje Neonatal / Inmunodeficiencia Combinada Grave / Dermatitis Exfoliativa / Subunidad alfa del Receptor de Interleucina-7 / Secuenciación del Exoma / Inmunidad Celular / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Screening_studies Límite: Female / Humans / Infant / Newborn Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2017 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tamizaje Neonatal / Inmunodeficiencia Combinada Grave / Dermatitis Exfoliativa / Subunidad alfa del Receptor de Interleucina-7 / Secuenciación del Exoma / Inmunidad Celular / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Screening_studies Límite: Female / Humans / Infant / Newborn Idioma: En Revista: J Eur Acad Dermatol Venereol Asunto de la revista: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Año: 2017 Tipo del documento: Article País de afiliación: Suiza