Early Onset of Wilson’s Disease and Possible Role of Disease-Modifying Genes: A Case Report and Literature Review
Wilson’s disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, resulting in copper accumulation. Symptoms rarely appear before the age of 5, almost never before 3. The phenotypic variability of WD suggests the presence of modifying factors, making early diagnosis...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
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| Series: | Case Reports in Hepatology |
| Online Access: | http://dx.doi.org/10.1155/crhe/3815089 |
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