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Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
Almaas, Runar; Atneosen-Åsegg, Monica; Ytre-Arne, Mari Eknes; Melheim, Maria; Sorte, Hanne Sørmo; Cízková, Dana; Reims, Henrik Mikael; Bezrouk, Ales; Harrison, Sean Philip; Strand, Janne; Hermansen, Johanne Uthus; Andersen, Sofie Strøm; Eiklid, Kristin Louise; Mokrý, Jaroslav; Sullivan, Gareth John; Stray-Pedersen, Asbjørg.
Afiliación
  • Almaas R; Department of Pediatric Research, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950, Nydalen, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Paediatrics, Division of Paediatric and Adolescent Medicine, Oslo University Hos
  • Atneosen-Åsegg M; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Ytre-Arne ME; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Melheim M; Department of Pediatric Research, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950, Nydalen, Oslo, Norway; European Reference Network - Rare Liver.
  • Sorte HS; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Cízková D; Department of Histology and Embryology, Faculty of Medicine in Hradec Kralove, Charles University, Hradec Kralove, Czech Republic.
  • Reims HM; European Reference Network - Rare Liver; Department of Pathology, Oslo University Hospital, Oslo, Norway.
  • Bezrouk A; Department of Medical Biophysics, Faculty of Medicine in Hradec Kralove, Charles University, Hradec Kralove, Czech Republic.
  • Harrison SP; Department of Pediatric Research, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950, Nydalen, Oslo, Norway; European Reference Network - Rare Liver.
  • Strand J; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Hermansen JU; Department of Pediatric Research, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950, Nydalen, Oslo, Norway.
  • Andersen SS; Department of Pediatric Research, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950, Nydalen, Oslo, Norway.
  • Eiklid KL; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Mokrý J; Department of Histology and Embryology, Faculty of Medicine in Hradec Kralove, Charles University, Hradec Kralove, Czech Republic.
  • Sullivan GJ; Department of Pediatric Research, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950, Nydalen, Oslo, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway; European Reference Network - Rare Liver.
  • Stray-Pedersen A; European Reference Network - Rare Liver; Norwegian National Unit for Newborn Screening, Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
J Hepatol ; 79(4): 945-954, 2023 10.
Article en En | MEDLINE | ID: mdl-37328071
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Colestasis / Péptidos y Proteínas de Señalización Intracelular / Linfedema Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Newborn Idioma: En Revista: J Hepatol Asunto de la revista: GASTROENTEROLOGIA Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Colestasis / Péptidos y Proteínas de Señalización Intracelular / Linfedema Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Newborn Idioma: En Revista: J Hepatol Asunto de la revista: GASTROENTEROLOGIA Año: 2023 Tipo del documento: Article