| 1 | DIAR5, EPCAM
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| Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.
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| Tang W, Huang T, Xu Z, Huang Y.
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| J Clin Gastroenterol. Jan;52(1):e1-e6. doi: 10.1097/MCG.0000000000000739. 2018
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| 2 | DIAR5, EPCAM
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| Tufting enteropathy revisited: the utility of MOC31 (EpCAM) immunohistochemistry in diagnosis.
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| Ranganathan S, Schmitt LA, Sindhi R.
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| Am J Surg Pathol 38(2):265-72. doi: 10.1097/PAS.0000000000000106.
2014
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| 3 | CSODS, DIAR5, EPCAM, SPINT2
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| Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
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| Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A.
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| Hum Genet 133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19.
2014
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| 4 | DIAR5, EPCAM
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| Absence of cell-surface EpCAM in congenital tufting enteropathy.
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| Schnell U, Kuipers J, Mueller JL, Veenstra-Algra A, Sivagnanam M, Giepmans BN.
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| Hum Mol Genet 22(13):2566-71. doi: 10.1093/hmg/ddt105. Epub 2013 Mar 5.
2013
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| 5 | DIAR5, EPCAM
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| Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation.
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| Al-Mayouf SM, Alswaied N, Alkuraya FS, Almehaidib A, Faqih M.
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| J Pediatr Gastroenterol Nutr 49(5):642-4. No abstract available. PMID: 19820410 2009
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| 6 | DIAR5, EPCAM
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| Identification of EpCAM as the gene for congenital tufting enteropathy.
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| Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, Zlotkin SH, Pencharz PB, Ngan BY, Libiger O, Schork NJ, Lavine JE, Taylor S, Newbury RO, Kolodner RD, Hoffman HM.
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| Gastroenterology 135(2):429-37. Epub 2008 May 15.PMID: 18572020 [PubMed 2008
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| 7 | DIAR5
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| Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases.
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| Goulet OJ, Brousse N, Canioni D, Walker-Smith JA, Schmitz J, Phillips AD.
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| J Pediatr Gastroenterol Nutr 26(2):151-61.PMID: 9481629 1998
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