76 | DECODING THES PATHOGENESIS: HOW TTC37 SHAPES GUT HOMEOSTASIS AND PERISTALSIS
Trichohepatoenteric Syndrome (THES) is an ultra-rare, multisystem disorder caused by biallelic mutations in the TTC37 or SKIV2L genes, which encode essential subunits of the SKI complex, a cofactor for the RNA exosome. The hallmark of THES is intractable
GEI - SOCIETÀ ITALIANA DI BIOLOGIA DELLO SVILUPPO E DELLA CELLULA
doaj +1 more source
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child. [PDF]
Eser HC +8 more
europepmc +1 more source
Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review. [PDF]
Gao J, Hu X, Hu W, Sun X, Chen L.
europepmc +1 more source
A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations. [PDF]
Orlando LJ +5 more
europepmc +1 more source
A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report. [PDF]
Albar RF +4 more
europepmc +1 more source
A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome. [PDF]
Taher ZA +4 more
europepmc +1 more source
The Multifaceted Syndromic Primary Immunodeficiencies in Children. [PDF]
Ng KF +3 more
europepmc +1 more source
Trichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review. [PDF]
Isa HM +5 more
europepmc +1 more source
Trichohepatoenteric syndrome: founder mutation in asian indians. [PDF]
Kotecha UH, Movva S, Puri RD, Verma IC.
europepmc +1 more source
Histopathological Features of Monogenic Inflammatory Bowel Disease: Subanalysis of Systematic Review. [PDF]
Nambu R +5 more
europepmc +1 more source

