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Last Updated: 10/31/2025
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Found 81 publications
Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis.
Journal: Human genome variation
Published: April 29, 2025
A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.
Journal: Molecular genetics & genomic medicine
Published: April 02, 2025
Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report.
Journal: Biomedical reports
Published: February 12, 2025
Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome.
Journal: Clinical genetics
Published: August 26, 2024
PytheasDB: An open-access graphical database of clinical data on rare pediatric digestive diseases.
Journal: Intractable & rare diseases research
Published: August 20, 2024
A Case Report on Tricho-Hepato-Enteric Syndrome: The SKIC3 Gene in Focus.
Journal: Cureus
Published: April 11, 2024
Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.
Journal: BMC pediatrics
Published: March 23, 2024
Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant.
Journal: BMJ case reports
Published: February 21, 2024
Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.
Journal: Molecular biology reports
Published: February 09, 2024
Trichohepatoenteric syndrome and cytomegalovirus infection: Case report and literature summary.
Journal: SAGE open medical case reports
Published: November 07, 2023
Gut microbiota and polycystic ovary syndrome, focus on genetic associations: a bidirectional Mendelian randomization study.
Journal: Frontiers in endocrinology
Published: August 10, 2023
Last Updated: 10/31/2025