Ontology highlight
ABSTRACT:
SUBMITTER: Luo S
PROVIDER: S-EPMC8062744 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Luo Sukun S Chen Luyi L Wei Weizhong W Tan Li L Zhang Meng M Duan Zhengrong Z Cao Jiangxia J Zhou Yan Y Zhou Aifen A He Xuelian X
Frontiers in cardiovascular medicine 20210409
<b>Background:</b> Congenital heart defects (CHDs) are the most common birth defects, and left heart hypoplasia (LHH) is a severe form of CHD and responsible for more than 20% cardiac deaths during the first week of life, however, its genetic causes remain largely elusive. <b>Methods:</b> Three families with fetal LHH were recruited. Genomic DNA from amniotic fluid or peripheral blood, and trio whole exome sequencing (trio-WES) and copy number variation sequencing (CNV-seq) were performed. <b>Re ...[more]