Lethal Skeletal Dysplasia in Fetus With Novel COL1A1 Variant

被引：0
|
作者：
Wang, Michelle J. [1 ]
Schioppo, Davia [1 ]
Donovan, Bridget M. [1 ]
Febres-Cordero, Daniela A. [1 ]
Connolly, Susan [2 ]
Robinson, Julian [1 ]
Duffy, Cassandra R. [1 ,2 ]
机构：
[1] Beth Israel Deaconess Med Ctr, Dept Obstet & Gynecol, Div Maternal Fetal Med, Boston, MA 02215 USA
[2] Boston Childrens Hosp, Maternal Fetal Care Ctr, Boston, MA USA
来源：
PRENATAL DIAGNOSIS | 2024年 / 44卷 / 11期
关键词：
COL1A1; congenital malformation; osteogenesis; prenatal diagnosis; skeletal dysplasia; whole exome sequencing; OSTEOGENESIS IMPERFECTA; PRENATAL-DIAGNOSIS; RECURRENCE; MOSAICISM;
D O I：
10.1002/pd.6652
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1412 / 1415
页数：4
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