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Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.
Guleray, Naz; Kosukcu, Can; Taskiran, Zihni Ekim; Simsek Kiper, Pelin Ozlem; Utine, Gulen Eda; Gucer, Safak; Tokatli, Aysegul; Boduroglu, Koray; Alikasifoglu, Mehmet.
Affiliation
  • Guleray N; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Kosukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Taskiran ZE; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey.
  • Simsek Kiper PO; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Gucer S; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Tokatli A; Division of Pediatric Pathology, Department of Pediatrics, Hacettepe Universitesi Faculty of Medicine, Ankara, Turkey.
  • Boduroglu K; Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Fetal Pediatr Pathol ; 39(2): 163-171, 2020 Apr.
Article in En | MEDLINE | ID: mdl-31303091
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Phosphotransferases (Alcohol Group Acceptor) / Mutation / Cardiomyopathies Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Infant / Male Language: En Journal: Fetal Pediatr Pathol Journal subject: PATOLOGIA / PEDIATRIA Year: 2020 Type: Article Affiliation country: Turkey
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Phosphotransferases (Alcohol Group Acceptor) / Mutation / Cardiomyopathies Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Infant / Male Language: En Journal: Fetal Pediatr Pathol Journal subject: PATOLOGIA / PEDIATRIA Year: 2020 Type: Article Affiliation country: Turkey