• A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report
• A case of tricho-hepato-enteric syndrome
• A new genetic mutation in a patient with syndromic diarrhea and hepatoblastoma
• 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
• A New Variant Mutation in <em>SKIV2L</em> Gene in Case of Trichohepatoenteric Syndrome
• A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea
• A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations
• An RNA Metabolism and Surveillance Quartet in the Major Histocompatibility Complex
• Case Report: A Novel Homozygous Frameshift Mutation of the <em>SKIV2L</em> Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis
• Case Report: Novel Compound-Heterozygous Variants of <em>SKIV2L</em> Gene that Cause Trichohepatoenteric Syndrome 2
• Clinical features of Kawasaki disease complicated by macrophage activation syndrome: an analysis of 27 cases
• Clinical spectrum of woolly hair: indications for cerebral involvement
• Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
• Congenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis
• Congenital enteropathies involving defects in enterocyte structure or differentiation
• Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome
• Cytoplasmic RNA quality control failure engages mTORC1-mediated autoinflammatory disease
• Emerging roles of the processing of nucleic acids and Toll-like receptors in innate immune responses to nucleic acids
• Ethanol lock and immunoglobulin load: Improving the clinical course of trichohepatoenteric syndrome
• Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome
• Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa
• Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome
• Expanding the clinical spectrum in trichohepatoenteric syndrome
• Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome
• Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review
• Graft versus host disease in a pediatric multiple organ transplant recipient with trichohepatoenteric syndrome - a unique case report
• Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors
• Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation
• IBD-Like Features in Syndromic Diarrhea/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
• Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder
• Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature
• Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease
• Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
• Novel <em>TTC37</em> mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review
• Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome
• Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome
• Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome
• RNA exosome drives early B cell development via noncoding RNA processing mechanisms
• RNA exosomes keep endogenous RNA under the radar
• Sensing of RNA stress by mTORC1 drives autoinflammation
• SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses
• Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila
• SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome
• Syndromic (phenotypic) diarrhea in early infancy
• Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome
• Syndromic diarrhea/Tricho-hepato-enteric syndrome
• Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome
• The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism
• The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease
• The mammalian SKIV2L RNA exosome is essential for early B cell development
• The RNA exosome and RNA exosome-linked disease
• The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders
• The SKIV2L RNA exosome limits activation of the RIG-I-like receptors
• The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan
• Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea
• Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children
• Tricho-hepato-enteric syndrome
• Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature
• Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects
• Tricho-hepato-enteric syndrome presenting with mild colitis
• Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report
• Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality
• Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies
• Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia
• Trichohepatoenteric Syndrome
• Trichohepatoenteric Syndrome or Syndromic Diarrhea-Report of Three Members in a Family, First Report from Iran
• Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea
• Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case
• Trichohepatoenteric syndrome: founder mutation in asian indians
• UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking