@article{marsili:hal-02440935,
TITLE = {Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient},
AUTHOR = {Marsili, Luisa and Overwater, Eline and Hanna, Nadine and Baujat, Genevi{\`e}ve and Baars, Marieke J H and Boileau, Catherine and Bonneau, Dominique and Brehin, Anne Claire and Capri, Yline and Cheung, Ho y and Dulfer, Eelco and Gerard, Marion and Gouya, Laurent and Hilhorst-Hofstee, Yvonne and Houweling, Arjan C and Isidor, Bertrand and Le Gloan, Lauriane and Menke, Leonie A and Odent, Sylvie and Morice-Picard, Fanny and Vanlerberghe, Clemence and Voorhoeve, Els and van Tintelen, J Peter and Maugeri, Alessandra and Arnaud, Pauline},
URL = {https://univ-rennes.hal.science/hal-02440935},
JOURNAL = {Clinical Genetics},
PUBLISHER = {Wiley},
VOLUME = {97},
NUMBER = {5},
PAGES = {723-730},
YEAR = {2020},
MONTH = May, DOI = {10.1111/cge.13700},
KEYWORDS = {connective tissue disorder ; transforming growth factor beta 3 ; aortic dissection ; Loeys-Dietz syndrome ; aortic dilatation ; TGFB3},
PDF = {https://univ-rennes.hal.science/hal-02440935/file/Marsili%20et%20al-2020-Phenotypic%20spectrum%20of%20TGFB3%20disease-causing%20variants.pdf},
HAL_ID = {hal-02440935},
HAL_VERSION = {v1},
}