Expanding phenotype of FAM111B ‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym

POIKiloderma, tendon contractures, myopathy, pulmonary fibrosis is a congenital multisystem disorder due to FAM111B dominant variants. We present a literature review focusing on the frequency and the impact of hepatic involvement and a case report of a patient with severe end‐stage liver disease. Wh...

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Detalles Bibliográficos
Autores principales: Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Cortellessa, Fabiana, Gonfiantini, Michaela V., Buonuomo, Paola S., Pietrobattista, Andrea, Francalanci, Paola, Travaglini, Lorena, Bertini, Enrico S., El Hachem, Maya, Bartuli, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546324/
https://www.ncbi.nlm.nih.gov/pubmed/35869874
http://dx.doi.org/10.1002/ajmg.a.62906

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546324/
https://www.ncbi.nlm.nih.gov/pubmed/35869874
http://dx.doi.org/10.1002/ajmg.a.62906

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