COL1A2新突变致胎儿严重成骨不全症1例报告
董辰 刘姜睿璇 杨琳 任芸芸 周文浩
A de novo COL1A2 gene mutation in a fetus with severe osteogenesis imperfect and phenotype-genotype correlation analysis
DONG Cheng, LIUJIANG Rui-xuan, YANG Lin, REN Yun-yun, ZHOU Wen-hao
中国循证儿科杂志 . 2016, (1): 42 -46 .