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Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
Karhan, Asuman Nur; Zammouri, Jamila; Auclair, Martine; Capel, Emilie; Apaydin, Feramuz Demir; Ates, Fehmi; Verpont, Marie-Christine; Magré, Jocelyne; Fève, Bruno; Lascols, Olivier; Usta, Yusuf; Jéru, Isabelle; Vigouroux, Corinne.
Afiliación
  • Karhan AN; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Mersin University Faculty of Medicine, Mersin, Turkey.
  • Zammouri J; Sorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France.
  • Auclair M; Sorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France.
  • Capel E; Sorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France.
  • Apaydin FD; Department of Radiology, Mersin University Faculty of Medicine, Mersin, Turkey.
  • Ates F; Department of Gastroenterology, Mersin University Faculty of Medicine, Mersin, Turkey.
  • Verpont MC; Sorbonne University, Inserm UMR_S1155, LUMIC, Tenon Imagery and Cytometry Platform, Paris, France.
  • Magré J; Nantes University, CNRS, Inserm UMR_S1087, Institut du Thorax, Nantes, France.
  • Fève B; Sorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France.
  • Lascols O; Department of Endocrinology, Diabetology and Reproductive Endocrinology, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Paris, France.
  • Usta Y; Sorbonne University, Inserm UMR_S938, Saint-Antoine Research Centre, Institute of Cardiometabolism and Nutrition, Paris, France.
  • Jéru I; Department of Molecular Biology and Genetics, Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, Paris, France.
  • Vigouroux C; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Mersin University Faculty of Medicine, Mersin, Turkey.
Eur J Endocrinol ; 185(6): 841-854, 2021 Nov 10.
Article en En | MEDLINE | ID: mdl-34643546
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acalasia del Esófago / Caveolina 1 / Lipodistrofia Generalizada Congénita Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Turquía
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acalasia del Esófago / Caveolina 1 / Lipodistrofia Generalizada Congénita Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Turquía