@article{arnaud:hal-04513174,
TITLE = {Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome},
AUTHOR = {Arnaud, Pauline and Mougin, Zakaria and Baujat, Genevieve and Drouin-Garraud, Val{\'e}rie and El Chehadeh, Salima and Gouya, Laurent and Odent, Sylvie and Jondeau, Guillaume and Boileau, Catherine and Hanna, Nadine and Le Goff, Carine},
URL = {https://hal.science/hal-04513174},
JOURNAL = {Journal of Medical Genetics},
PUBLISHER = {BMJ Publishing Group},
PAGES = {jmg-2023-109646},
YEAR = {2024},
MONTH = Mar, DOI = {10.1136/jmg-2023-109646},
KEYWORDS = {Marfan syndrome},
HAL_ID = {hal-04513174},
HAL_VERSION = {v1},
}