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

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

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...

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Bibliographic Details
Main Authors: Annamaria Sapuppo, Piero Pavone, Andrea Domenico Praticò, Martino Ruggieri, Gaetano Bertino, Agata Fiumara
Format: Article
Language:English
Published: BMC 2020-06-01
Series:BMC Medical Genetics
Subjects:
Wilson disease
Genotype-phenotype correlation
ATP7B gene - ceruloplasmin
Copper - hepatolenticular degeneration
Online Access:http://link.springer.com/article/10.1186/s12881-020-01062-6

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http://link.springer.com/article/10.1186/s12881-020-01062-6

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