1.
Clin Case Rep
; 12(5): e8853, 2024 May.
Article
in English
| MEDLINE
| ID: mdl-38698876
ABSTRACT
This current case series adds to the spectrum of Arthrogryposis renal dysfunction cholestasis (ARC)-associated variants. Increased awareness and early genetic testing for ARC are suggested in cases with failure to thrive, renal tubular dysfunction, and rickets, even when the degree of cholestasis is mild. Prompt identification and intervention may improve the quality of life.