SERPINA11 related novel Serpinopathy- a perinatal lethal disorder
Shagun Aggarwal, Venugopal Satidevi Vineeth, Shrutika S. Padwal, Sameer Ahmed Bhat, Arpita Singh, Aditya Kulkarni, Mallikarjun Patil, Karthik Bharadwaj Tallapaka, Divya Pasumarthi, Vijayasree Venkatapuram, Pragna Lakshmi Thotakura, Ashwin Bhikaji Dalal, Rashna Bhandari
The paper identifies a perinatal lethal disorder caused by biallelic loss-of-function variants in SERPINA11, showing its role in extracellular matrix remodelling during embryonic development.
Clinical Genetics · Jun 3, 2024Peer-reviewedGenetic & Genomic Medicine