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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-37328071
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colestase / Peptídeos e Proteínas de Sinalização Intracelular / Linfedema Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: J Hepatol Assunto da revista: GASTROENTEROLOGIA Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colestase / Peptídeos e Proteínas de Sinalização Intracelular / Linfedema Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Revista: J Hepatol Assunto da revista: GASTROENTEROLOGIA Ano de publicação: 2023 Tipo de documento: Article