Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

• मुख्य लेखकों: Yan Liu (लेखक), Li Wang (लेखक), Yi-Ke Yang (लेखक), Ying Liang (लेखक), Tie-Juan Zhang (लेखक), Na Liang (लेखक), Li-Man Yang (लेखक), Si-Jing Li (लेखक), Dan Shan (लेखक), Qing-Qing Wu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background This study aims to provide genetic diagnoses for 30 cases of fetal skeletal dysplasia, and a molecular basis for the future prenatal diagnosis of fetal skeletal dysplasia. Methods A total of 30 cases of fetal skeletal dysplasia detected with ultrasound between January 2014 and Ju...