@article{lavillaureix:hal-04534147,
TITLE = {DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations},
AUTHOR = {Lavillaureix, Alino{\"e} and Rollier, Paul and Kim, Artem and Panasenkava, Veranika and de Tayrac, Marie and Carr{\'e},
Wilfrid and Guyodo, Helene and Faoucher, Marie and Poirel, Elisabeth and Akloul, Linda and Qu{\'e}lin, Chlo{\'e} and Whalen, Sandra and Bos, Jessica and Broekema, Marjoleine and van Hagen, Johanna M. and Grand, Katheryn and Allen-Sharpley, Michelle and Magness, Emily and Mclean, Scott and Kayserili, Hulya and Altunoglu, Umut and En Qi Chong, Angie and Xue, Shifeng and Jeanne, M{\'e}d{\'e}ric and Almontashiri, Naif and Habhab, Wisam and Vanlerberghe, Cl{\'e}mence and Faivre, Laurence and Viora-Dupont, El{\'e}onore and Philippe, Christophe and Safraou, Hana and Laffargue, Fanny and Mittendorf, Luisa and Abou Jamra, Rami and Patil, Siddaramappa Jagdish and Dalal, Ashwin and Sarma, Asodu Sandeep and Keren, Boris and Reversade, Bruno and Dubourg, Christ{\`e}le and Odent, Sylvie and Dup{\'e},
Val{\'e}rie},
URL = {https://hal.science/hal-04534147},
JOURNAL = {Genetics in Medicine},
PUBLISHER = {Nature Publishing Group},
PAGES = {101126},
YEAR = {2024},
MONTH = Mar, DOI = {10.1016/j.gim.2024.101126},
KEYWORDS = {SHH ; congenital nasal piriform aperture stenosis ; holoprosencephaly ; midline defects ; solitary median maxillary central incisor},
HAL_ID = {hal-04534147},
HAL_VERSION = {v1},
}