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

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 hypertransaminase...

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Detalles Bibliográficos
Autores principales: Sapuppo, Annamaria, Pavone, Piero, Praticò, Andrea Domenico, Ruggieri, Martino, Bertino, Gaetano, Fiumara, Agata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291468/
https://www.ncbi.nlm.nih.gov/pubmed/32532207
http://dx.doi.org/10.1186/s12881-020-01062-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291468/
https://www.ncbi.nlm.nih.gov/pubmed/32532207
http://dx.doi.org/10.1186/s12881-020-01062-6

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