Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

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 phenotyp...

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Detalles Bibliográficos
Autores principales: Kodama, Yoshihiko, Meiri, Satoru, Asada, Tomoko, Matsuyama, Misayo, Makino, Shinya, Iwai, Minayo, Yamaguchi, Masatoshi, Moritake, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495319/
https://www.ncbi.nlm.nih.gov/pubmed/37696855
http://dx.doi.org/10.1038/s41439-023-00252-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495319/
https://www.ncbi.nlm.nih.gov/pubmed/37696855
http://dx.doi.org/10.1038/s41439-023-00252-x

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