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A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3.
Demir, Engin; Dogulu, Neslihan; Tuna Kirsaçlioglu, Ceyda; Topçu, Vehap; Eminoglu, Fatma Tuba; Kuloglu, Zarife; Kansu, Aydan.
Affiliation
  • Demir E; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
  • Dogulu N; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
  • Tuna Kirsaçlioglu C; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
  • Topçu V; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.
  • Eminoglu FT; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
  • Kuloglu Z; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
  • Kansu A; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Faculty of Medicine, Ankara University, Ankara, Turkey.
Mol Syndromol ; 14(2): 136-142, 2023 Apr.
Article in En | MEDLINE | ID: mdl-37064336
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Syndromol Year: 2023 Document type: Article Affiliation country: Turquía
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Syndromol Year: 2023 Document type: Article Affiliation country: Turquía