Open access
Jul 2026
Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variants
A single ATP7B LOF variant, especially c.813C>A was associated with advanced liver disease, portal hypertension, and extrahepatic involvement and over a follow-up of 6.7 years, a single LOF variant did not show a poorer liver or overall outcomes in comparison to ≥2 LOF variants.
A. K. Mishra, M. Sarma, Anchal Dubey et al.
· Clinical and experimental pe... · 0 citations