Article
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.
American journal of medical genetics. Part A - 1 Oct 2022
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
Abstract excerpt
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. Whole exome sequencing (WES) was conducted on the proband and his parents. A de novo FAM111B: c.1879A > G;...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.