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SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C. Fabre A, et al. Am J Hum Genet. 2012 Apr 6;90(4):689-92. doi: 10.1016/j.ajhg.2012.02.009. Epub 2012 Mar 22. Am J Hum Genet. 2012. PMID: 22444670 Free PMC article.
Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Roquelaure B, Missirian C, André N, Breton A, Lachaux A, Odul E, Colomb V, Lemale J, Cézard JP, Goulet O, Sarles J, Levy N, Badens C. Fabre A, et al. Hum Mutat. 2011 Mar;32(3):277-81. doi: 10.1002/humu.21420. Epub 2011 Feb 17. Hum Mutat. 2011. PMID: 21120949
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C. Fabre A, et al. Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Orphanet J Rare Dis. 2013. PMID: 23302111 Free PMC article. Review.
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.
Fabre A, Breton A, Coste ME, Colomb V, Dubern B, Lachaux A, Lemale J, Mancini J, Marinier E, Martinez-Vinson C, Peretti N, Perry A, Roquelaure B, Venaille A, Sarles J, Goulet O, Badens C. Fabre A, et al. Arch Dis Child. 2014 Jan;99(1):35-8. doi: 10.1136/archdischild-2013-304016. Epub 2013 Oct 9. Arch Dis Child. 2014. PMID: 24108068
Digestive perianastomotic ulcerations and Crohn's disease.
Frémond ML, Viala J, Tréton X, Roy M, Berrebi D, Gottrand F, Bonnard A, Martinez-Vinson C, Hugot JP. Frémond ML, et al. J Crohns Colitis. 2014 Dec;8(12):1624-31. doi: 10.1016/j.crohns.2014.06.011. Epub 2014 Aug 6. J Crohns Colitis. 2014. PMID: 25107846
Microvillous atrophy: atypical presentations.
Perry A, Bensallah H, Martinez-Vinson C, Berrebi D, Arbeille B, Salomon J, Goulet O, Marinier E, Drunat S, Samson-Bouma ME, Gérard B, Hugot JP. Perry A, et al. J Pediatr Gastroenterol Nutr. 2014 Dec;59(6):779-85. doi: 10.1097/MPG.0000000000000526. J Pediatr Gastroenterol Nutr. 2014. PMID: 25111220
43 results