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Keywords: Trichohepatoenteric syndrome
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Journal Articles
Hatice Ceren Eser, Durdugul Ayyildiz Emecen, Ezgi Topyildiz, Esra Isik, Neslihan Edeer Karaca, Tahir Atik, Guzide Aksu, Ferda Ozkinay, Necil Kutukculer
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (6): 504–508.
Published Online: 07 August 2023
...Hatice Ceren Eser; Durdugul Ayyildiz Emecen; Ezgi Topyildiz; Esra Isik; Neslihan Edeer Karaca; Tahir Atik; Guzide Aksu; Ferda Ozkinay; Necil Kutukculer Introduction: Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in TTC37 and SKIV2L genes and characterized by intractable...
