Knockout of the gene encoding the extracellular matrix protein <scp>SNED1</scp> results in early neonatal lethality and craniofacial malformations

Abstract

Our results demonstrate requisite roles for SNED1 during development and neonatal survival. Importantly, the deletion of 2q37.3 in humans, a region that includes the SNED1 locus, has been associated with facial dysmorphism and short stature.