Ontology highlight
ABSTRACT:
SUBMITTER: Xu J
PROVIDER: S-EPMC6962893 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Xu Jinyu J Wu Qingqing Q Wang Li L Han Jijing J Pei Yan Y Zhi Wenxue W Liu Yan Y Yin Chenghong C Jiang Yuxin Y
International journal of clinical and experimental pathology 20180701 7
Atrioventricular septal defects (AVSDs) account for approximately 5% of all congenital heart disease (CHD). About half of AVSDs are diagnosed in cases with trisomy 21 (Down's syndrome, DS). However, many AVSDs occur sporadically and manifest as non-syndromic. The pathogenesis is complex and has not yet been fully elucidated. In the present study, we applied two advanced applications of next-generation sequencing (NGS) to explore the genetic variations in families with fetal non-syndromic AVSDs. ...[more]