:,使

Yu-Hong Long1, Si-Qi Wu2, Xin Wang3

  • 1Genetics Lab of Longgang Maternity and Child Institute of Shantou University Medical College (Longgang District Maternity & Child Healthcare Hospital of Shenzhen City), Shenzhen, Guangdong, China.

概括

一个COL4A1基因突变导致了通过产前超声波和MRI检测到的胎儿大脑异常. 整个外基因组测序证实了致病突变,突出了其在诊断罕见遗传疾病中的重要性.