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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-36779798
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cholangitis, Sclerosing / Ichthyosis Limits: Humans / Newborn Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2023 Document type: Article
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cholangitis, Sclerosing / Ichthyosis Limits: Humans / Newborn Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2023 Document type: Article