Case report
Open access
Aug 2026
A Novel Homozygous ATP7B Splice-Site Variant Causes Late-Onset Hepatic Wilson Disease
A 47-year-old asymptomatic man is presented who was incidentally discovered to have hepatic steatosis and cirrhosis without features of the metabolic syndrome and with normal physical examination and liver function tests, the first reported case of homozygosity for this mutation.
Ouwais Alkhateb, Don C. Rockey, K. Barada
· ACG Case Reports Journal · 0 citations