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.

Details

Title
Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
Author
Kodama, Yoshihiko 1   VIAFID ORCID Logo  ; Meiri, Satoru 1 ; Asada, Tomoko 1 ; Matsuyama, Misayo 1 ; Makino, Shinya 2 ; Iwai, Minayo 2 ; Yamaguchi, Masatoshi 2   VIAFID ORCID Logo  ; Moritake, Hiroshi 1   VIAFID ORCID Logo 

1  University of Miyazaki, Division of Pediatrics, Faculty of Medicine, Miyazaki, Japan (GRID:grid.410849.0) (ISNI:0000 0001 0657 3887) 
2  University of Miyazaki, Division of Clinical Genetics, Miyazaki, Japan (GRID:grid.410849.0) (ISNI:0000 0001 0657 3887) 
Pages
25
Publication year
2023
Publication date
2023
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-023-00252-x
ProQuest document ID
2863642065
Copyright
© The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.