New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report

BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) encompasses a group of autosomal recessive disorders with high morbidity and mortality. Variants in the gene encoding tight junction protein-2 (TJP2) have been linked to PFIC type 4 (PFIC4), which predominantly presents in childhood. H...

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Detalles Bibliográficos
Autores principales: Wei, Chun-Shan, Becher, Naja, Friis, Jenny Blechingberg, Ott, Peter, Vogel, Ida, Grønbæk, Henning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7015721/
https://www.ncbi.nlm.nih.gov/pubmed/32089630
http://dx.doi.org/10.3748/wjg.v26.i5.550

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