De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome.

Autor: Hudson R; Department of Renal Medicine, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Abeysekera N; Department of Renal Medicine, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.; Department of General Surgery, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Wolski P; Department of Diabetes and Endocrinology, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Francis L; Anatomical Pathology, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Farnsworth E; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital Westmead, Westmead, NSW, Australia., Bennetts B; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital Westmead, Westmead, NSW, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia., Spijker S; Department of Nephrology, Leiden University Medical Centre, Leiden, The Netherlands., Mallett A; Department of Renal Medicine, Townsville Hospital and Health Service, Townsville University Hospital, 100 Angus Smith Drive, Douglas, QLD, 4814, Australia. Andrew.mallett@health.qld.gov.au.; Faculty of Medicine, James Cook University, Townsville, QLD, Australia. Andrew.mallett@health.qld.gov.au.; Faculty of Medicine, The University of Queensland, Herston, QLD, Australia. Andrew.mallett@health.qld.gov.au.; Institute for Molecular Bioscience, The University of Queensland, St Lucia, QLD, Australia. Andrew.mallett@health.qld.gov.au.
Jazyk: angličtina
Zdroj: Journal of nephrology [J Nephrol] 2024 Jan; Vol. 37 (1), pp. 191-197. Date of Electronic Publication: 2023 Jun 13.
DOI: 10.1007/s40620-023-01666-0
Databáze: MEDLINE