Article
Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.
Cold Spring Harbor molecular case studies - 1 Jun 2020
Oltvai Zoltán N, Smith Eric A, Wiens Katie, Nogee Lawrence M, Luquette Mark, Nelson Andrew C, Wikenheiser-Brokamp Kathryn A
Abstract excerpt
The ATP-binding cassette transporter member A3 (ABCA3) is a lipid transporter with a critical function in pulmonary surfactant biogenesis. Biallelic loss-of-function mutations in ABCA3 result in severe surfactant deficiency leading to neonatal respiratory failure with death in the first year of life. Herein, we describe a newborn with severe respiratory distress at birth progressing to respiratory failure...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.