A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype
The skeletal phenotype may be a syndromic component of this disorder associated with <i>MARS2</i> intragenic variants.
Authors
- Hiroyuki Iijima (ORCID: https://orcid.org/0000-0002-7985-2411)
- Yuko Tsujioka (ORCID: https://orcid.org/0000-0003-1373-8277)
- Akira Ohtake (ORCID: https://orcid.org/0000-0003-1147-3113)
- Gen Nishimura (ORCID: https://orcid.org/0000-0003-0557-230X)
- Yoshiyuki Tsutsumi (ORCID: https://orcid.org/0000-0003-3317-3584)
- Yasushi Okazaki (ORCID: https://orcid.org/0000-0003-3241-5502)
- Kei Murayama (ORCID: https://orcid.org/0000-0002-3923-8636)
- Mitsuru Kubota (ORCID: https://orcid.org/0000-0002-5395-8226)
Institutions
- Keio University (JP)
- Juntendo University (JP)
- Saitama Medical University Hospital (JP)
- National Center For Child Health and Development (JP)
- Saitama Medical University (JP)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-02-06
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101198
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Japan Society for the Promotion of Science