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Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review.
Ronzoni, Luisa; Mureddu, Matteo; Malvestiti, Francesco; Moretti, Vittoria; Bianco, Cristiana; Periti, Giulia; Baldassarri, Margherita; Ariani, Francesca; Carrer, Anna; Pelusi, Serena; Renieri, Alessandra; Prati, Daniele; Valenti, Luca.
Affiliation
  • Ronzoni L; Biological Resource Center, and Department of Transfusion Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, 20122 Milan, Italy.
  • Mureddu M; Biological Resource Center, and Department of Transfusion Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, 20122 Milan, Italy.
  • Malvestiti F; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, Italy.
  • Moretti V; Biological Resource Center, and Department of Transfusion Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, 20122 Milan, Italy.
  • Bianco C; Biological Resource Center, and Department of Transfusion Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, 20122 Milan, Italy.
  • Periti G; Biological Resource Center, and Department of Transfusion Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, 20122 Milan, Italy.
  • Baldassarri M; Medical Genetics, University of Siena, 53100 Siena, Italy.
  • Ariani F; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
  • Carrer A; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.
  • Pelusi S; Medical Genetics, University of Siena, 53100 Siena, Italy.
  • Renieri A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.
  • Prati D; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.
  • Valenti L; Medical Genetics, University of Siena, 53100 Siena, Italy.
Genes (Basel) ; 14(8)2023 08 16.
Article in En | MEDLINE | ID: mdl-37628684

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability Limits: Child, preschool / Female / Humans Language: En Journal: Genes (Basel) Year: 2023 Document type: Article Affiliation country: Italy Country of publication: Switzerland

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability Limits: Child, preschool / Female / Humans Language: En Journal: Genes (Basel) Year: 2023 Document type: Article Affiliation country: Italy Country of publication: Switzerland