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Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.
Kutlu, Tufan; Tekant, Gonca Topuzlu; Eroglu, Ayse Güler; Üstündag, Nil Çomunoglu; Öztürk, Birol; Onay, Hüseyin; Tüysüz, Beyhan.
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  • Nilay Günes; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
  • Kutlu T; Department of Pediatric Gastroenterology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
  • Tekant GT; Department of Pediatric Surgery, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
  • Eroglu AG; Department of Pediatric Cardiology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
  • Üstündag NÇ; Department of Pathology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
  • Öztürk B; Department of Pediatric Gastroenterology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.
  • Onay H; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.
  • Tüysüz B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey. Electronic address: beyhan@istanbul.edu.tr.
Eur J Med Genet ; 63(4): 103819, 2020 Apr.
Article en En | MEDLINE | ID: mdl-31778856
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aciltransferasas / Proteínas de Unión al ARN / Lipodistrofia Generalizada Congénita Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aciltransferasas / Proteínas de Unión al ARN / Lipodistrofia Generalizada Congénita Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Países Bajos