先天性矮小結腸
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English Journal
- Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
- Halim D1, Brosens E1, Muller F2, Wangler MF3, Beaudet AL3, Lupski JR4, Akdemir ZHC5, Doukas M6, Stoop HJ6, de Graaf BM1, Brouwer RWW7, van Ijcken WFJ7, Oury JF8, Rosenblatt J8, Burns AJ9, Tibboel D10, Hofstra RMW11, Alves MM12.
- American journal of human genetics.Am J Hum Genet.2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8.
- PMID 28602422
- Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
- Halim D1, Wilson MP2, Oliver D3, Brosens E1, Verheij JB4, Han Y2, Nanda V2, Lyu Q2, Doukas M5, Stoop H5, Brouwer RW6, van IJcken WF6, Slivano OJ2, Burns AJ1,7, Christie CK2, de Mesy Bentley KL8, Brooks AS1, Tibboel D9, Xu S2, Jin ZG2, Djuwantono T10, Yan W3, Alves MM1, Hofstra RM11,7, Miano JM12.
- Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. Epub 2017 Mar 14.
- PMID 28292896
- The incidence and outcome of allied disorders of Hirschsprung's disease in Japan: Results from a nationwide survey.
- Taguchi T1, Ieiri S2, Miyoshi K2, Kohashi K2, Oda Y2, Kubota A2, Watanabe Y2, Matsufuji H2, Fukuzawa M2, Tomomasa T2.
- Asian journal of surgery.Asian J Surg.2017 Jan;40(1):29-34. doi: 10.1016/j.asjsur.2015.04.004. Epub 2015 Jul 26.
- PMID 26216257
Japanese Journal
- 逆吹き流し像(reversed wind sock sign)を呈した先天性結腸膜様閉鎖症の1例
- 遺伝子解析で確定診断した先天性クロール下痢症の1例
- 特徴的な胎児超音波所見を指摘し得た先天性結腸閉鎖症の1例
★リンクテーブル★
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- 関
- congenital、congenitally
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