Progressive Familial Intrahepatic Cholestasis Type 3 Homozygous Pathogenic Variant c.2906G>A in the ATP Binding Cassette Subfamily B Member 4 (ABCB4) Gene: A Case Report of an Unusual Presentation

Progressive familial intrahepatic cholestasis (PFIC) describes a heterogeneous group of autosomal-recessive childhood liver disorders in which cholestasis of hepatocellular origin frequently manifests during infancy or the first year of life and progresses to liver failure. We report a case of a fiv...

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Detalles Bibliográficos
Autores principales: Alasmari, Badriah G, Rayees, Syed, Alomari, Mohammed, Elzubair, Lina, Hamid, Yassin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834668/
https://www.ncbi.nlm.nih.gov/pubmed/36644077
http://dx.doi.org/10.7759/cureus.32455

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834668/
https://www.ncbi.nlm.nih.gov/pubmed/36644077
http://dx.doi.org/10.7759/cureus.32455

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