Genetic & Genomic MedicineClinical GeneticsPeer-reviewed
SERPINA11 related novel Serpinopathy- a perinatal lethal disorder
Shagun Aggarwal, Venugopal Satidevi Vineeth, Shrutika S. Padwal…·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.