Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report
- DOI
- 10.1016/j.ejmg.2025.105012
- Published
- 2025-06
- Container
- European Journal of Medical Genetics
- Publisher
- Elsevier BV
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.ejmg.2025.105012,
title = {Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report},
author = {Bertille Bonniaud and Maxime Luu and Coline Cormier and Caroline Racine and Aurélie Espitalier and Charlotte Malbranche and Adélaïde Rega and Théo Gaumet and Paul Kuentz and Pierre Vabres and Christel Thauvin-Robinet and Marc Bardou and Sébastien Gay and Laurence Faivre and Julian Delanne},
year = {2025},
journal = {European Journal of Medical Genetics},
doi = {10.1016/j.ejmg.2025.105012},
url = {https://doi.org/10.1016/j.ejmg.2025.105012}
}RIS
TY - JOUR TI - Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report AU - Bertille Bonniaud AU - Maxime Luu AU - Coline Cormier AU - Caroline Racine AU - Aurélie Espitalier AU - Charlotte Malbranche AU - Adélaïde Rega AU - Théo Gaumet AU - Paul Kuentz AU - Pierre Vabres AU - Christel Thauvin-Robinet AU - Marc Bardou AU - Sébastien Gay AU - Laurence Faivre AU - Julian Delanne PY - 2025 JO - European Journal of Medical Genetics DO - 10.1016/j.ejmg.2025.105012 UR - https://doi.org/10.1016/j.ejmg.2025.105012 ER -
APA
Bonniaud, B., Luu, M., Cormier, C., Racine, C., Espitalier, A., Malbranche, C., Rega, A., Gaumet, T., Kuentz, P., Vabres, P., Thauvin-Robinet, C., Bardou, M., Gay, S., Faivre, L., & Delanne, J. (2025). Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report. European Journal of Medical Genetics. https://doi.org/10.1016/j.ejmg.2025.105012
Source records
- crossref · retrieved 2026-09-27T03:44:00.395Z