Trichohepatoenteric Syndrome Latest Advances

Reduced immunoglobulin requirement after dupilumab for atopic dermatitis in trichohepatoenteric syndrome.

Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

Published: September 07, 2025

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

Trichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.

Journal: Cureus

Published: December 12, 2024

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