Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Hum Genome Var. 2023 Sep 11;10(1):25. doi: 10.1038/s41439-023-00252-x.


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.