Tricho-hepato-enteric syndrome
Definition:
References:
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[1]. Alexandre Fabre, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012 Apr 6;90(4):689-92. [Content Brief]
[2]. Alexandre Fabre, et al. Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome. Arch Dis Child. 2014 Jan;99(1):35-8. [Content Brief]
[3]. Alexandre Fabre, et al. Syndromic diarrhea/Tricho-hepato-enteric syndrome. Orphanet J Rare Dis. 2013 Jan 9;8:5. [Content Brief]
[4]. Jane Louise Hartley, et al. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology. 2010 Jun;138(7):2388-98, 2398.e1-2. [Content Brief]
[5]. Jin Ho Chong, et al. Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. Eur J Pediatr. 2015 Oct;174(10):1405-11. [Content Brief]
[6]. Olivier Goulet, et al. Syndromic (phenotypic) diarrhea in early infancy. Orphanet J Rare Dis. 2008 Feb 28;3:6. [Content Brief]
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