Progressive Familial Intrahepatic Cholestasis Type 1 Associated with Cherry-Red Spots in an Infant: A First Case Report

Progressive familial intrahepatic cholestasis type 1 (PFIC1) associated with a cherry-red spot, to our knowledge, has never been reported in the literature. We report the case of a 10‑month‑old girl with prolonged cholestasis. A diagnosis of PFIC1 was made by whole‑exome sequencing. Fundus examinati...

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Detalles Bibliográficos
Autores principales: Alzebaidi, Sarah, Alghamdi, Yara, Alghamdi, Amal, Hasosah, Mohammed, Alsharef, Emad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Family/General Practice
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7755659/
https://www.ncbi.nlm.nih.gov/pubmed/33376662
http://dx.doi.org/10.7759/cureus.12226

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7755659/
https://www.ncbi.nlm.nih.gov/pubmed/33376662
http://dx.doi.org/10.7759/cureus.12226

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