Article
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.
Journal of medical genetics - 1 Jul 2016
Chen Yixin, Liu Zhenlei, Chen Jia, Zuo Yuzhi, Liu Sen, Chen Weisheng, Liu Gang, Qiu Guixing, Giampietro Philip F, Wu Nan, Wu Zhihong
Abstract excerpt
VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is...
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