Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly

被引：14
作者：
Donnelly, Meghan [1 ]
Todd, Emily [1 ]
Wheeler, Marsha [1 ]
Winn, Virginia D. [1 ]
Kamnasaran, Deepak [2 ,3 ]
机构：
[1] Univ Colorado, Sch Med, Div Maternal Fetal Med, Aurora, CO 80045 USA
[2] Ctr Rech CHUL, Pediat Res Unit, Quebec City, PQ, Canada
[3] Univ Laval, Dept Pediat, Quebec City, PQ G1K 7P4, Canada
来源：
PRENATAL DIAGNOSIS | 2012年 / 32卷 / 09期
基金：
加拿大自然科学与工程研究理事会;
关键词：
GENE;
D O I：
10.1002/pd.3910
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：903 / 905
页数：3
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