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A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.
Mancioppi, Valentina; Daffara, Tommaso; Romanisio, Martina; Ceccarini, Giovanni; Pelosini, Caterina; Santini, Ferruccio; Bellone, Simonetta; Mellone, Simona; Baricich, Alessio; Rabbone, Ivana; Aimaretti, Gianluca; Akinci, Baris; Giordano, Mara; Prodam, Flavia.
Afiliação
  • Mancioppi V; Division of Pediatrics, Department of Health Sciences, University of Piemonte Orientale, Novara, Italy.
  • Daffara T; Endocrinology, Department of Translational Medicine, University of Piemonte Orientale, Novara, Italy.
  • Romanisio M; Endocrinology, Department of Translational Medicine, University of Piemonte Orientale, Novara, Italy.
  • Ceccarini G; Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Pisa, Italy.
  • Pelosini C; Chemistry and Endocrinology Laboratory, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy.
  • Santini F; Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Pisa, Italy.
  • Bellone S; Division of Pediatrics, Department of Health Sciences, University of Piemonte Orientale, Novara, Italy.
  • Mellone S; Interdisciplinary Research Center of Autoimmune and Allergic Diseases, University of Piemonte Orientale, Novara, Italy.
  • Baricich A; Laboratory of Genetics, Struttura Complessa a Direzione Universitaria (SCDU) Biochimica Clinica, Ospedale Maggiore della Carità, Novara, Italy.
  • Rabbone I; Physical Medicine and Rehabilitation, Department of Health Sciences, University of Piemonte Orientale, Novara, Italy.
  • Aimaretti G; Division of Pediatrics, Department of Health Sciences, University of Piemonte Orientale, Novara, Italy.
  • Akinci B; Endocrinology, Department of Translational Medicine, University of Piemonte Orientale, Novara, Italy.
  • Giordano M; Division of Endocrinology and Metabolism, Faculty of Medicine, Dokuz Eylul University, Izmir, Türkiye.
  • Prodam F; Laboratory of Genetics, Struttura Complessa a Direzione Universitaria (SCDU) Biochimica Clinica, Ospedale Maggiore della Carità, Novara, Italy.
Front Endocrinol (Lausanne) ; 14: 1212729, 2023.
Article em En | MEDLINE | ID: mdl-37501786
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Lipodistrofia Generalizada Congênita / Lipodistrofia / Doenças Musculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Lipodistrofia Generalizada Congênita / Lipodistrofia / Doenças Musculares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article