Waardenburg综合征合并完全性无神经节症。
Waardenburg's syndrome associated with total aganglionosis.
作者信息
Farndon P A, Bianchi A
出版信息
Arch Dis Child. 1983 Nov;58(11):932-3. doi: 10.1136/adc.58.11.932.
Abstract
A Pakistani child of consanguineous parents had signs of Waardenburg's syndrome and total intestinal aganglionosis. This association seems to be a distinct clinical entity with an autosomal recessive mode of inheritance.
摘要
一名父母近亲结婚的巴基斯坦儿童有瓦登伯革氏综合征的体征及全肠无神经节症。这种关联似乎是一种具有常染色体隐性遗传模式的独特临床实体。
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引用本文的文献
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本文引用的文献
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Studies on megacolon in piebald mice.花斑小鼠巨结肠的研究。
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Intestinal loop lengthening--a technique for increasing small intestinal length.肠袢延长术——一种增加小肠长度的技术。
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White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.白发额发、虹膜色素沉着紊乱与长段先天性巨结肠病：可能为瓦登伯革综合征的变异型
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Total intestinal aganglionosis. An autosomal recessive condition?全肠道无神经节症。一种常染色体隐性疾病？
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The association of Waardenburg syndrome and Hirschsprung megacolon.瓦登伯格综合征与先天性巨结肠的关联。
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