Human Genome Variation (Sep 2023)
Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
Abstract
Abstract Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones. In this case report, we describe a patient who suffered from OI type XIV with a novel splice site variant in the TMEM38B gene. Further research is needed to better understand the relationship between the phenotype of OI type XIV and this variant.