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Neonatal ichthyosis-sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature.
Demir, Engin; Tuna Kirsaçlioglu, Ceyda; Saltik-Temizel, Inci Nur; Ürel-Demir, Gizem; Karaosmanoglu, Beren; Taskiran, Ekim Zihni; Simsek-Kiper, Pelin Özlem; Utine, Gülen Eda; Kuloglu, Zarife; Kansu, Aydan.
Afiliação
  • Demir E; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University.
  • Tuna Kirsaçlioglu C; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University.
  • Saltik-Temizel IN; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics.
  • Ürel-Demir G; Department of Pediatric Genetics, Department of Pediatrics.
  • Karaosmanoglu B; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Simsek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics.
  • Utine GE; Department of Pediatric Genetics, Department of Pediatrics.
  • Kuloglu Z; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University.
  • Kansu A; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University.
Clin Dysmorphol ; 32(2): 88-91, 2023 04 01.
Article em En | MEDLINE | ID: mdl-36779798
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colangite Esclerosante / Ictiose Limite: Humans / Newborn Idioma: En Revista: Clin Dysmorphol Assunto da revista: TERATOLOGIA Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colangite Esclerosante / Ictiose Limite: Humans / Newborn Idioma: En Revista: Clin Dysmorphol Assunto da revista: TERATOLOGIA Ano de publicação: 2023 Tipo de documento: Article