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

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

A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.

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

PytheasDB: An open-access graphical database of clinical data on rare pediatric digestive diseases.

Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome.

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.

Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

A Case Report on Tricho-Hepato-Enteric Syndrome: The SKIC3 Gene in Focus.

Trichohepatoenteric syndrome and cytomegalovirus infection: Case report and literature summary.

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

Gut microbiota and polycystic ovary syndrome, focus on genetic associations: a bidirectional Mendelian randomization study.

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.

Long term outcomes in children with trichohepatoenteric syndrome.

SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses.

[Clinical features of Kawasaki disease complicated by macrophage activation syndrome: an analysis of 27 cases].

Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review.

Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.

RNA exosome drives early B cell development via noncoding RNA processing mechanisms.

The mammalian SKIV2L RNA exosome is essential for early B cell development.

A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations.

UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.

Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis.

Congenital enteropathies involving defects in enterocyte structure or differentiation.

The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism.

Sensing of RNA stress by mTORC1 drives autoinflammation.

Cytoplasmic RNA quality control failure engages mTORC1-mediated autoinflammatory disease.

A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report.

Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2.

Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.

Congenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis.

Expanding the clinical spectrum in trichohepatoenteric syndrome.

A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome.

The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan.

Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila.

An RNA Metabolism and Surveillance Quartet in the Major Histocompatibility Complex.

A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea.

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.

Ethanol lock and immunoglobulin load: Improving the clinical course of trichohepatoenteric syndrome.

Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case.

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.

A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.

Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.

Graft versus host disease in a pediatric multiple organ transplant recipient with trichohepatoenteric syndrome - a unique case report.

Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea.

The RNA exosome and RNA exosome-linked disease.

[A case of tricho-hepato-enteric syndrome].

Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.

IBD-Like Features in Syndromic Diarrhea/Trichohepatoenteric Syndrome.

Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome.

Emerging roles of the processing of nucleic acids and Toll-like receptors in innate immune responses to nucleic acids.

Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.

Trichohepatoenteric Syndrome or Syndromic Diarrhea-Report of Three Members in a Family, First Report from Iran.

The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders.

The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease.

Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.

Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.