Article
An Effort to Identify Genetic Determinants in Siblings With Wilson Disease Manifesting Striking Clinical Heterogeneity: An Exome Profiling Study of Two Indian Families.
Pediatric neurology - 1 Jun 2024
Saha Arpan, Das Shristi, De Samragni, Dutta Tithi, Roy Shubhrajit, Biswas Atanu, Sengupta Mainak
Abstract excerpt
BACKGROUND: Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism caused due to mutations in the copper transporter ATP7B. There is often a striking variability of clinical manifestations among patients with ATP7B mutations, including in siblings. This phenomenon may be caused by individual differences in copper accumulation in hepatocytes and intolerance to copper toxicity as governed...
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