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Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families.
Li, Mingfeng; Fischer, Judith; Safwat, Sylvia; Shoman, Walaa; Chazli, Yasmine El; Alter, Svenja; Has, Cristina; Abdalla, Ebtesam.
Afiliación
  • Li M; Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Fischer J; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
  • Shoman W; Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
  • Chazli YE; Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
  • Alter S; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Has C; Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Pediatr Dermatol ; 40(1): 113-119, 2023 Jan.
Article en En | MEDLINE | ID: mdl-36670503
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Árabes / Proteinosis Lipoidea de Urbach y Wiethe Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Pediatr Dermatol Año: 2023 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Árabes / Proteinosis Lipoidea de Urbach y Wiethe Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Pediatr Dermatol Año: 2023 Tipo del documento: Article País de afiliación: Alemania