Article
Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population.
Clinical genetics - 1 Nov 2017
Zhu Zhongxian, Peng Lei, Chen Guanglin, Jiang Weiwei, Shen Ziyang, Du Chunxia, Zang Rujin, Su Yang, Xie Hua, Li Hongxing, Xia Yankai, Tang Weibing
Abstract excerpt
BACKGROUND: Anorectal malformations (ARMs) are among the most commonly congenital abnormalities of distal hindgut development, ranging from anal stenosis to anal atresia with or without fistulas and persistent cloaca. The etiology remains elusive for most ARM cases and the majority of genetic studies on ARMs were based on a candidate gene approach. MATERIALS AND METHODS: In all eight family members of a...
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