Article
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.
BMC medical genetics - 12 Jun 2020
Sapuppo Annamaria, Pavone Piero, Praticò Andrea Domenico, Ruggieri Martino, Bertino Gaetano, Fiumara Agata
Abstract excerpt
BACKGROUND: Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, basal ganglia and chornea. Main clinical manifestations are hypertransaminasemia, tremors, dysarthria, dystonia and psychiatric symptoms. The phenotypic variability in WD is considerable and...
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