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Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity
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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Society of Pediatric Endocrinology
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537669/ https://www.ncbi.nlm.nih.gov/pubmed/34670068 http://dx.doi.org/10.6065/apem.2142042.021 |