全外显子家系测序在
WDR35基因复合杂合变异导致SRPS-5胎儿产前诊断中的价值
赵旭亮, 田瑞霞, 施友文, 俞敏, 焦鎏鎏, 朱复希
Role of the prenatal diagnosis of SRPS-5 neonate caused by compound heterozygous mutation of
WDR35 by Trio-WES
ZHAO Xuliang, TIAN Ruixia, SHI Youwen, YU Min, JIAO Liuliu, ZHU Fuxi
检验医学
.
2022, (10): 928
-933
.
DOI: 10.3969/j.issn.1673-8640.2022.010.004
