对怀疑遗传性白质疾病的个体进行诊断的方法

Guy Helman1, Jennifer L Orthmann-Murphy2, Adeline Vanderver3

  • 1Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

PubMed
概括

诊断罕见的儿科白血病,影响白质的疾病,是具有挑战性的. 下一代测序显著提高了诊断率,减少了受影响儿童和家庭的延迟.