A large French family with TGFBR2 pathogenic variant: illustration of variability.
- DOI
- 10.1186/s13023-025-04124-1
- Published
- 2025 Nov 27
- Container
- Orphanet journal of rare diseases
- Publisher
- Not recorded
- Open access
- yes
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limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
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Cite this work
BibTeX
@article{allodium:10.1186/s13023-025-04124-1,
title = {A large French family with TGFBR2 pathogenic variant: illustration of variability.},
author = {Eliahou L and Milleron O and Haviari S and Arnoult F and Hanna N and Arnaud P and Toure F and Jadoui S and Mirmiran A and Boileau C and Jondeau G},
year = {2025},
journal = {Orphanet journal of rare diseases},
doi = {10.1186/s13023-025-04124-1},
url = {https://doi.org/10.1186/s13023-025-04124-1}
}RIS
TY - JOUR TI - A large French family with TGFBR2 pathogenic variant: illustration of variability. AU - Eliahou L AU - Milleron O AU - Haviari S AU - Arnoult F AU - Hanna N AU - Arnaud P AU - Toure F AU - Jadoui S AU - Mirmiran A AU - Boileau C AU - Jondeau G PY - 2025 JO - Orphanet journal of rare diseases DO - 10.1186/s13023-025-04124-1 UR - https://doi.org/10.1186/s13023-025-04124-1 ER -
APA
L, E., O, M., S, H., F, A., N, H., P, A., F, T., S, J., A, M., C, B., & G, J. (2025). A large French family with TGFBR2 pathogenic variant: illustration of variability.. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-025-04124-1
Source records
- pubmed · retrieved 2026-09-26T00:35:32.786Z