Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature.
- DOI
- 10.1186/s13023-024-03363-y
- Published
- 2024-09-30
- Container
- Orphanet J Rare Dis
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1186/s13023-024-03363-y,
title = {Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G \> C, p.R258S): a case report and review of literature.},
author = {Yang S and Cui R and Li J and Dai R.},
year = {2024},
journal = {Orphanet J Rare Dis},
doi = {10.1186/s13023-024-03363-y},
url = {https://doi.org/10.1186/s13023-024-03363-y}
}RIS
TY - JOUR TI - Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature. AU - Yang S AU - Cui R AU - Li J AU - Dai R. PY - 2024 JO - Orphanet J Rare Dis DO - 10.1186/s13023-024-03363-y UR - https://doi.org/10.1186/s13023-024-03363-y ER -
APA
S, Y., R, C., J, L., & R., D. (2024). Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature.. Orphanet J Rare Dis. https://doi.org/10.1186/s13023-024-03363-y
Source records
- europe-pmc · retrieved 2026-11-10T11:38:33.938Z
- doaj · retrieved 2026-11-10T11:38:33.923Z