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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

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

Kodama Yoshihiko Y Meiri Satoru S Asada Tomoko T Matsuyama Misayo M Makino Shinya S Iwai Minayo M Yamaguchi Masatoshi M Moritake Hiroshi H

Human genome variation 20230911 1

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. ...[more]

PMID: 37696855

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