Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

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...

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Bibliographic Details
Main Authors: Yoshihiko Kodama, Satoru Meiri, Tomoko Asada, Misayo Matsuyama, Shinya Makino, Minayo Iwai, Masatoshi Yamaguchi, Hiroshi Moritake
Format: Article
Language:English
Published: Nature Publishing Group 2023-09-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-023-00252-x

Internet

https://doi.org/10.1038/s41439-023-00252-x

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