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De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome.
Hudson, Rebecca; Abeysekera, Natasha; Wolski, Penny; Simons, Cas; Francis, Leo; Farnsworth, Elizabeth; Bennetts, Bruce; Patel, Chirag; Spijker, Siebe; Mallett, Andrew.
Afiliación
  • 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.
  • Wolski P; Department of General Surgery, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
  • Simons C; Department of Diabetes and Endocrinology, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
  • Francis L; Centre for Population Genomics, Garvan Institute of Medical Research, and University of New South Wales, Sydney, NSW, Australia.
  • Farnsworth E; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Bennetts B; Anatomical Pathology, Pathology Queensland, Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
  • Patel C; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital Westmead, Westmead, NSW, Australia.
  • Spijker S; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital Westmead, Westmead, NSW, Australia.
  • Mallett A; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
J Nephrol ; 37(1): 191-197, 2024 Jan.
Article en En | MEDLINE | ID: mdl-37308774

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Fanconi Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: J Nephrol Asunto de la revista: NEFROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Italia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Fanconi Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: J Nephrol Asunto de la revista: NEFROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Italia