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Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias.
Afiliación
  • Grassi M; Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, University Hospital Bern, University of Bern, Bern, Switzerland.
  • Laubscher B; Department of Pediatrics, Réseau hospitalier neuchâtelois, Neuchâtel, Switzerland.
  • Pandey AV; Department of Pediatrics, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.
  • Tschumi S; Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, University Hospital Bern, University of Bern, Bern, Switzerland.
  • Graber F; Department of Biomedical Research, University of Bern, Bern, Switzerland.
  • Schaller A; Pediatric Nephrology, Inselspital, University Hospital Bern, Bern, Switzerland.
  • Janner M; Institute of Pathology, University of Bern, Bern, Switzerland.
  • Aeberli D; Department of Human Genetics, Inselspital, University Hospital Bern, University of Bern, Bern, Switzerland.
  • Hewer E; Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, University Hospital Bern, University of Bern, Bern, Switzerland.
  • Nuoffer JM; Department of Rheumatology and Immunology, Inselspital, University Hospital Bern, Bern, Switzerland.
  • Gautschi M; Institute of Pathology, University of Bern, Bern, Switzerland.
Mol Syndromol ; 14(4): 347-361, 2023 Aug.
Article en En | MEDLINE | ID: mdl-37766831
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Syndromol Año: 2023 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Syndromol Año: 2023 Tipo del documento: Article País de afiliación: Suiza Pais de publicación: Suiza