A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

• Main Authors: Weifeng Zhang (Author), Zhiyong Liu (Author), Yiming Lin (Author), Ruiquan Wang (Author), Jinglin Xu (Author), Ying He (Author), Fengfeng Zhang (Author), Lianqiang Wu (Author), Dongmei Chen (Author)
• Format: Book
• Published: BMC, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants. Pulmonary surfactant metabolism dysfunction caused by variants in the ABCA3 gene is a rare disease with very poor prognosis. Curr...