一个与范德伍德综合征受累家族面部不对称相关的IRF6基因新突变。
A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.
作者信息
Miñones-Suárez Lorena, Mas-Vidal Alberto, Fernandez-Toral Joaquin, Llano-Rivas Isabel, González-García Manuel
机构信息
Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain.
出版信息
Pediatr Dermatol. 2012 Nov-Dec;29(6):768-70. doi: 10.1111/j.1525-1470.2011.01575.x. Epub 2011 Oct 13.
Abstract
This report describes a novel missense mutation in the interferon regulation factor 6 (IRF6) gene associated to facial asymmetry. This new feature widens the phenotype spectrum of Van der Woude syndrome (VWS).
摘要
本报告描述了一种与面部不对称相关的干扰素调节因子6（IRF6）基因的新型错义突变。这一新特征拓宽了范德伍德综合征（VWS）的表型谱。
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