Case Report: A Novel Single Variant TJP2 Mutation in a Case of Benign Recurrent Intrahepatic Cholestasis

Benign recurrent intrahepatic cholestasis (BRIC) is a disease on the spectrum of familial intrahepatic cholestasis caused by homozygous ABCB11 or ATP8B1 mutations. In recent years, genetic testing has allowed for discovery of a variety of homozygous or compound heterozygous TJP2 mutations associated...

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Detalles Bibliográficos
Autores principales: Kornitzer, Gaël A., Alvarez, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191565/
https://www.ncbi.nlm.nih.gov/pubmed/37205944
http://dx.doi.org/10.1097/PG9.0000000000000087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191565/
https://www.ncbi.nlm.nih.gov/pubmed/37205944
http://dx.doi.org/10.1097/PG9.0000000000000087

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