Variable Intrafamilial Expression of ABCB4 Disease

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare cholestatic liver disease with autosomal recessive inheritance caused by mutations in the ABCB4 gene. The clinical presentation of PFIC3 varies significantly, displaying incomplete penetrance without clear genotype-phenotype corr...

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Detalles Bibliográficos
Autores principales: Zampaglione, Lucia, Rougemont, Anne-Laure, Rubbia-Brandt, Laura, Abramowicz, Marc, Guipponi, Michel, Marchionni, Enrica, Valerie, McLin, Goossens, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419571/
https://www.ncbi.nlm.nih.gov/pubmed/37575491
http://dx.doi.org/10.14309/crj.0000000000001113

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419571/
https://www.ncbi.nlm.nih.gov/pubmed/37575491
http://dx.doi.org/10.14309/crj.0000000000001113

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