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.
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| Title: | 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. |
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| Authors: | Macchiaiolo M; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Panfili FM; Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; School of Pediatrics, University of Tor Vergata, Rome, Italy., Vecchio D; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Cortellessa F; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Gonfiantini MV; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Buonuomo PS; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS, Rome, Italy., Pietrobattista A; Division of Gastroenterology, Hepatology and Nutrition, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Francalanci P; Department of Pathology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization, and Health Care, Rome, Italy., Travaglini L; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy., Bertini ES; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy., El Hachem M; Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bartuli A; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS, Rome, Italy. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2920-2931. Date of Electronic Publication: 2022 Jul 23. |
| Publication Type: | Case Reports; Journal Article; Review |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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