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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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
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author Kodama, Yoshihiko
Meiri, Satoru
Asada, Tomoko
Matsuyama, Misayo
Makino, Shinya
Iwai, Minayo
Yamaguchi, Masatoshi
Moritake, Hiroshi
author_facet Kodama, Yoshihiko
Meiri, Satoru
Asada, Tomoko
Matsuyama, Misayo
Makino, Shinya
Iwai, Minayo
Yamaguchi, Masatoshi
Moritake, Hiroshi
author_sort Kodama, Yoshihiko
collection PubMed
description 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.
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spelling pubmed-104953192023-09-13 Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV Kodama, Yoshihiko Meiri, Satoru Asada, Tomoko Matsuyama, Misayo Makino, Shinya Iwai, Minayo Yamaguchi, Masatoshi Moritake, Hiroshi Hum Genome Var Data Report 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. Nature Publishing Group UK 2023-09-11 /pmc/articles/PMC10495319/ /pubmed/37696855 http://dx.doi.org/10.1038/s41439-023-00252-x Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Kodama, Yoshihiko
Meiri, Satoru
Asada, Tomoko
Matsuyama, Misayo
Makino, Shinya
Iwai, Minayo
Yamaguchi, Masatoshi
Moritake, Hiroshi
Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
title Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
title_full Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
title_fullStr Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
title_full_unstemmed Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
title_short Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
title_sort novel splice site variant of tmem38b in osteogenesis imperfecta type xiv
topic Data Report
url 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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