Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype

• Main Authors: Annamaria Sapuppo (Author), Piero Pavone (Author), Andrea Domenico Praticò (Author), Martino Ruggieri (Author), Gaetano Bertino (Author), Agata Fiumara (Author)
• Format: Book
• Published: BMC, 2020-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 hypertran...