Mutations in POMT1 have been identified in Walker- Warburg syndrome and in patients with limb- girdle muscular dystrophy......

目的利用全外显子测序技术对患有脑积水和先天性心脏病的胎儿进行产前诊断,并指导再次妊娠。方法提取胎儿羊水细胞DNA以及父母外周......