Further evidence for EpCAM as the gene for congenital tufting enteropathy.
作者信息
Sivagnanam Mamata, Schaible Tiffany, Szigeti Reka, Byrd Robert H, Finegold Milton J, Ranganathan Sarangarajan, Gopalakrishna G S, Tatevian Nina, Kellermayer Richard
机构信息
Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of California San Diego, La Jolla, California, USA.
出版信息
Am J Med Genet A. 2010 Jan;152A(1):222-4. doi: 10.1002/ajmg.a.33186.
Abstract
摘要
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本文引用的文献
1
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.SPINT2基因的突变会导致一种综合征形式的先天性钠腹泻。
Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29.
2
Identification of EpCAM as the gene for congenital tufting enteropathy.鉴定EpCAM为先天性簇状肠病的致病基因。
Gastroenterology. 2008 Aug;135(2):429-37. doi: 10.1053/j.gastro.2008.05.036. Epub 2008 May 15.
3
A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities.一种伴有眼科、血液学及毛发异常的簇状肠病和后鼻孔闭锁新综合征。
Clin Dysmorphol. 2007 Oct;16(4):211-21. doi: 10.1097/MCD.0b013e328274264b.
4
Intestinal epithelial dysplasia (tufting enteropathy).肠上皮发育异常（簇状肠病）。
Orphanet J Rare Dis. 2007 Apr 20;2:20. doi: 10.1186/1750-1172-2-20.
5
Tufting enteropathy and skeletal dysplasia: is there a link?
Eur J Pediatr. 2007 Mar;166(3):265-8. doi: 10.1007/s00431-006-0231-z. Epub 2006 Aug 10.
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Neonatal enteropathies: defining the causes of protracted diarrhea of infancy.新生儿肠道疾病：确定婴儿慢性腹泻的病因
J Pediatr Gastroenterol Nutr. 2004 Jan;38(1):16-26. doi: 10.1097/00005176-200401000-00007.
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Protracted diarrhea: results of the five-year survey in a tertiary hospital in Korea.迁延性腹泻：韩国一家三级医院的五年调查结果
J Korean Med Sci. 2001 Dec;16(6):736-41. doi: 10.3346/jkms.2001.16.6.736.
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Intractable infant diarrhea with epithelial dysplasia associated with polymalformation.
J Pediatr Gastroenterol Nutr. 1998 Sep;27(3):348-52. doi: 10.1097/00005176-199809000-00016.
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Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants.
J Pediatr Gastroenterol Nutr. 1994 Apr;18(3):379-85.
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