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Trichohepatoenteric Syndrome.
Fabre A, Bourgeois P, Chaix C, Bertaux K, Goulet O, Badens C. Fabre A, et al. 2018 Jan 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 Jan 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29334452 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysm …
CLINICAL CHARACTERISTICS: Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is character …
Expanding the clinical spectrum in trichohepatoenteric syndrome.
Dorum S, Gorukmez O. Dorum S, et al. Am J Med Genet A. 2021 Oct;185(10):2873-2877. doi: 10.1002/ajmg.a.62354. Epub 2021 May 26. Am J Med Genet A. 2021. PMID: 34037310
Trichohepatoenteric syndrome (THES) is a very rare autosomal recessive genetic disorder, which is characterized by intractable diarrhea during infancy, dysmorphic features, immunodeficiency, and a failure to thrive. ...
Trichohepatoenteric syndrome (THES) is a very rare autosomal recessive genetic disorder, which is characterized by intractable …
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.
Eser HC, Ayyildiz Emecen D, Topyildiz E, Isik E, Edeer Karaca N, Atik T, Aksu G, Ozkınay F, Kutukculer N. Eser HC, et al. Mol Syndromol. 2023 Dec;14(6):504-508. doi: 10.1159/000531408. Epub 2023 Aug 7. Mol Syndromol. 2023. PMID: 38058753
INTRODUCTION: Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in TTC37 and SKIV2L genes and characterized by intractable diarrhea, facial dysmorphism, hair abnormality, immunodeficiency, and skin abnormalities. ...
INTRODUCTION: Trichohepatoenteric syndrome (THES) is caused by pathogenic mutations in TTC37 and SKIV2L genes and characterize …
Long term outcomes in children with trichohepatoenteric syndrome.
Lee KY, Bremner R, Hartley J, Protheroe S, Haller W, Johnson T, Whyte L. Lee KY, et al. Am J Med Genet A. 2024 Feb;194(2):141-149. doi: 10.1002/ajmg.a.63409. Epub 2023 Sep 27. Am J Med Genet A. 2024. PMID: 37753667
Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by mutations in either TTC37 or SKIV2L, usually leading to congenital diarrhea as part of a multisystem disease. ...
Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by mutations in either TTC37 or SKIV2L, usua …
Trichohepatoenteric syndrome and cytomegalovirus infection: Case report and literature summary.
Zhu Y, Cao Y, Ma L, Fan L, Pu W, Xia Y. Zhu Y, et al. SAGE Open Med Case Rep. 2024 May 9;12:2050313X241248393. doi: 10.1177/2050313X241248393. eCollection 2024. SAGE Open Med Case Rep. 2024. PMID: 38737560 Free PMC article.
Trichohepatoenteric syndrome is a rare autosomal recessive genetic disease caused by TTC37 (also known as SKIC3) or SKIV2L gene variant. ...The infant was discharged with no fever and high stool frequency, but his condition improved. Therefore, trichohepatoenteri …
Trichohepatoenteric syndrome is a rare autosomal recessive genetic disease caused by TTC37 (also known as SKIC3) or SKIV2L gen …
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.
Vély F, Barlogis V, Marinier E, Coste ME, Dubern B, Dugelay E, Lemale J, Martinez-Vinson C, Peretti N, Perry A, Bourgeois P, Badens C, Goulet O, Hugot JP, Farnarier C, Fabre A. Vély F, et al. Front Immunol. 2018 May 11;9:1036. doi: 10.3389/fimmu.2018.01036. eCollection 2018. Front Immunol. 2018. PMID: 29868001 Free PMC article.
The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of the putative human SKI complex involved in RNA degradation. ...
The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system genetic disorder caused by mutation in …
A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations.
Orlando LJ, Yim MK, Hallmark T, Cotner M, Johnson SJ, van Hoof A. Orlando LJ, et al. MicroPubl Biol. 2022 May 20;2022:10.17912/micropub.biology.000575. doi: 10.17912/micropub.biology.000575. eCollection 2022. MicroPubl Biol. 2022. PMID: 35607352 Free PMC article.
The intestinal and immune disorder trichohepatoenteric syndrome (THES) is characterized by mutations in human Ski2 and Ski3, also known as SKIV2L and TTC37, respectively. ...
The intestinal and immune disorder trichohepatoenteric syndrome (THES) is characterized by mutations in human Ski2 and Ski3, a …
Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila.
Ohnuma K, Kishita Y, Nyuzuki H, Kohda M, Ohtsu Y, Takeo S, Asano T, Sato-Miyata Y, Ohtake A, Murayama K, Okazaki Y, Aigaki T. Ohnuma K, et al. FEBS Lett. 2020 Apr 15. doi: 10.1002/1873-3468.13792. Online ahead of print. FEBS Lett. 2020. PMID: 32294252 Free article.
Tetratricopeptide repeat protein 37 (TTC37) is a causative gene of trichohepatoenteric syndrome (THES). However, little is known about the pathogenesis of this disease. ...
Tetratricopeptide repeat protein 37 (TTC37) is a causative gene of trichohepatoenteric syndrome (THES). However, little is kno …
Trichohepatoenteric syndrome: founder mutation in asian indians.
Kotecha UH, Movva S, Puri RD, Verma IC. Kotecha UH, et al. Mol Syndromol. 2012 Aug;3(2):89-93. doi: 10.1159/000339896. Epub 2012 Jul 5. Mol Syndromol. 2012. PMID: 23326254 Free PMC article.
Trichohepatoenteric syndrome (THES) is characterized by chronic diarrhea, dysmorphic facies and hair abnormalities. ...
Trichohepatoenteric syndrome (THES) is characterized by chronic diarrhea, dysmorphic facies and hair abnormalities. ...
61 results