whole-exome sequencing in 6 individuals from a six-generation family with synpolydactyly.. WES project of SPD family

A six-generation Chinese family with synpolydactyly was recruited in Guangdong province, south of China. The pathogenic mutation were not identified. Therefore, six individuals including 2 healthy and 4 affected individuals were used for performing whole-exome sequencing.

中国南部广东省纳入了一个携带并多指（synpolydactyly）表型的六代中国家系。目前尚未明确该家系的致病突变。因此，研究选取其中6名个体（包含2名健康者与4名受累个体）开展全外显子组测序（whole-exome sequencing）。