Trichohepatoenteric Syndrome Latest Advances

Find the Latest Research About Trichohepatoenteric Syndrome

Last Updated: 04/28/2026

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Found 84 publications

Analysis of a child with Osteo-oto-hepato-enteric syndrome and a literature review

Analysis of a child with Osteo-oto-hepato-enteric syndrome and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 31, 2026

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Case Report: Tricho-hepato-enteric syndrome in an infant presented with colorectal ulceration and severe respiratory superinfection.

Journal: Frontiers in immunology
Published: October 09, 2025

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant.

Journal: BMJ case reports
Published: February 21, 2024
Showing 1-12 of 84

Last Updated: 04/28/2026