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Article

Genotype-phenotype correlation in Italian children with Wilson's disease.

Journal of hepatology - 1 Mar 2009

Nicastro Emanuele, Loudianos Georgios, Zancan Lucia, D'Antiga Lorenzo, Maggiore Giuseppe, Marcellini Matilde, Barbera Cristiana, Marazzi Maria Grazia, Francavilla Ruggiero, Pastore Maria, Vajro Pietro, D'Ambrosi Mariangela, Vegnente Angela, Ranucci Giusy, Iorio Raffaele

Abstract excerpt

BACKGROUND/AIMS: Wilson's disease phenotype is very variable for clinical and laboratory features. Our aim was to assess the role of the type of ATP7B disease causing mutations on Wilson's disease phenotype. METHODS: We retrospectively evaluated the data of children with Wilson's disease from eight pediatric departments. RESULT: Fifty-eight patients (34 male, median age at diagnosis 7.4 years) from 47 unrelated...

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PMID: 19118915
DOI: 10.1016/j.jhep.2008.09.020

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