Information de reference pour ce titreAccession Number: | 01445366-201001000-00038.
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Author: | Sivagnanam, Mamata 1,2; Schaible, Tiffany 3; Szigeti, Reka 4; Byrd, Robert H. 4; Finegold, Milton J. 4; Ranganathan, Sarangarajan 5; Gopalakrishna, G. S. 3; Tatevian, Nina 4,6; Kellermayer, Richard 3
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Institution: | (1)Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of California San Diego, La Jolla, California (2)Rady Children's Hospital, San Diego, California (3)Section of Pediatric Gastroenterology and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, Texas (4)Department of Pathology, Baylor College of Medicine, Houston, Texas (5)Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania (6)Department of Pathology, University of Texas, Houston, Texas Section of Pediatric Gastroenterology, Hepatology 2399.
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Title: | |
Source: | American Journal Of Medical Genetics -A. 152A(1):222-224, January 2010.
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References: | Abely M, Hankard GF, Hugot JP, Cezard JP, Peuchmaur M, Navarro J. 1998. Intractable infant diarrhea with epithelial dysplasia associated with polymalformation. J Pediatr Gastroenterol Nutr 27: 348-352.
Beck NS, Kang IS, Suh YL. 2001. Protracted diarrhea: Results of the five-year survey in a tertiary hospital in Korea. J Korean Med Sci 16: 736-741.
Bird LM, Sivagnanam M, Taylor S, Newbury RO. 2007. A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. Clin Dysmorphol 16: 211-221.
El-Matary W, Dalzell AM, Kokai G, Davidson JE. 2007. Tufting enteropathy and skeletal dysplasia: Is there a link?. Eur J Pediatr 166: 265-268.
Goulet O, Salomon J, Ruemmele F, de Serres NP, Brousse N. 2007. Intestinal epithelial dysplasia (tufting enteropathy). Orphanet J Rare Dis 2: 20.
Heinz-Erian P, Muller T, Krabichler B, Schranz M, Becker C, Ruschendorf F, Nurnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Doczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. 2009. Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet 84: 188-196.
Reifen RM, Cutz E, Griffiths AM, Ngan BY, Sherman PM. 1994. Tufting enteropathy: A newly recognized clinicopathological entity associated with refractory diarrhea in infants. J Pediatr Gastroenterol Nutr 18: 379-385.
Sherman PM, Mitchell DJ, Cutz E. 2004. Neonatal enteropathies: Defining the causes of protracted diarrhea of infancy. J Pediatr Gastroenterol Nutr 38: 16-26.
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. 2008. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology 135: 429-437.
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Language: | English.
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Document Type: | Research Letters.
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Journal Subset: | Life & Biomedical Sciences. Science.
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ISSN: | 1552-4825
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DOI Number: | https://dx.doi.org/10.1002/ajmg....- ouverture dans une nouvelle fenêtre
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