Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV.

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.

SUBMITTER: Kodama Y 

PROVIDER: S-EPMC10495319 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature