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：

[No abstract available]

引用

页码：1412 / 1415

页数：4

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