Article
Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.
Molecular biology reports - 14 Jun 2024
Ozturk Murat, Ates Kubra, Esener Zeynep, Mutlu Hatice, Aydogmus Cigdem, Boztug Kaan, Sarac Hatice, Gezdirici Alper, Dogan Mustafa, Beser Omer Faruk, Varol Fatma Ilknur, Gokce Ismail Kursat, Ozdemir Ramazan, Tekedereli Ibrahim
Abstract excerpt
BACKGROUND: Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have...
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