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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.
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.
Afiliação
  • 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.
  • Vecchio D; School of Pediatrics, University of Tor Vergata, 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; Rare Diseases and Medical Genetics Unit, University-Hospital Pediatric Department (DPUO) Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
  • Francalanci P; Division of Gastroenterology, Hepatology and Nutrition, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Travaglini L; Department of Pathology, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization, and Health Care, Rome, Italy.
  • Bertini ES; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy.
  • El Hachem M; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience, Children's Hospital Bambino Gesù, IRCCS, Rome, Italy.
  • Bartuli A; Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Am J Med Genet A ; 188(10): 2920-2931, 2022 10.
Article em En | MEDLINE | ID: mdl-35869874
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pancreatopatias / Fibrose Pulmonar / Anormalidades da Pele / Contratura / Doença Hepática Terminal / Doenças Musculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pancreatopatias / Fibrose Pulmonar / Anormalidades da Pele / Contratura / Doença Hepática Terminal / Doenças Musculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article