Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity

• Main Authors: Minji Im (Author), Ari Song (Author), Jiyeon Kim (Author), Min-Sun Kim (Author), Sae-Mi Lee (Author), Mi Jin Kim (Author), Sung Yoon Cho (Author), Dong-Kyu Jin (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Wilson disease (WD) is a relatively common genetic hepatic disease in children and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diag...