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

doi:10.1007/s40620-023-01666-0

De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome

Document detail

ID

doi:10.1007/s40620-023-01666-0...

Author

Hudson, Rebecca Abeysekera, Natasha Wolski, Penny Simons, Cas Francis, Leo Farnsworth, Elizabeth Bennetts, Bruce Patel, Chirag Spijker, Siebe Mallett, Andrew

Langue

Editor

Springer

Year

2023

listing date

6/14/2023

Keywords

... atypical fanconi renal tubulopathy... tubulopathy de novo monogenic rare disease

Metrics

Hudson, Rebecca,Abeysekera, Natasha,Wolski, Penny,Simons, Cas,Francis, Leo,Farnsworth, Elizabeth,Bennetts, Bruce,Patel, Chirag,Spijker, Siebe,Mallett, Andrew, 2023, De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome, Springer