De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome

J Nephrol. 2024 Jan;37(1):191-197. doi: 10.1007/s40620-023-01666-0. Epub 2023 Jun 13.
No abstract available

Keywords: HNF4A; Atypical Fanconi Renal Tubulopathy Syndrome; De novo monogenic rare disease; Tubulopathy.

MeSH terms

  • Fanconi Syndrome* / diagnosis
  • Fanconi Syndrome* / genetics
  • Hepatocyte Nuclear Factor 4
  • Humans

Substances

  • HNF4A protein, human
  • Hepatocyte Nuclear Factor 4