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Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.
Vornweg, J; Gläser, S; Ahmad-Anwar, M; Zimmer, A D; Kuhn, M; Hörer, S; Korenke, G C; Grothaus, J; Ott, H; Fischer, J.
Afiliación
  • Vornweg J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Gläser S; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Ahmad-Anwar M; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Zimmer AD; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Kuhn M; Genetikum, Neu-Ulm, Germany.
  • Hörer S; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Korenke GC; Department of Pediatric Neurology, Klinikum Oldenburg, Oldenburg, Germany.
  • Grothaus J; Department of Pediatric Dermatology and Allergology, Center for Epidermolysis Bullosa, Children's Hospital Auf der Bult, Hanover, Germany.
  • Ott H; Department of Pediatric Dermatology and Allergology, Center for Epidermolysis Bullosa, Children's Hospital Auf der Bult, Hanover, Germany.
  • Fischer J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Br J Dermatol ; 184(6): 1190-1192, 2021 06.
Article en En | MEDLINE | ID: mdl-33452671
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Hereditarias de la Córnea / Sordera / Ictiosis / Queratitis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Br J Dermatol Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Hereditarias de la Córnea / Sordera / Ictiosis / Queratitis Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Newborn Idioma: En Revista: Br J Dermatol Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido