@article{chesneau:hal-03610074,
TITLE = {First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients},
AUTHOR = {Chesneau, Bertrand and Aubert-Mucca, Marion and Fremont, Felix and Pechmeja, Jacmine and Soler, Vincent and Isidor, Bertrand and Nizon, Mathilde and Dollfus, Helene and Kaplan, Josseline and Fares-Taie, Lucas and Rozet, Jean-Michel and Busa, Tiffany and Lacombe, Didier and Naudion, Sophie and Amiel, Jeanne and Rio, Marlene and Attie-Bitach, Tania and Lesage, Cecile and Thouvenin, Dominique and Odent, Sylvie and Morel, Godelieve and Vincent-Delorme, Catherine and Boute, Odile and Vanlerberghe, Clemence and Dieux, Anne and Boussion, Simon and Faivre, Laurence and Pinson, Lucile and Laffargue, Fanny and Le Guyader, Gwenael and Le Meur, Guyl{\`e}ne and Prieur, Fabienne and Lambert, Victor and Laudier, Beatrice and Cottereau, Edouard and Ayuso, Carmen and Corton-Perez, Marta and Bouneau, Laurence and Le Caignec, Cedric and Gaston, Veronique and Jeanton-Scaramouche, Claire and Dupin-Deguine, Delphine and Calvas, Patrick and Chassaing, Nicolas and Plaisancie, Julie},
URL = {https://hal.science/hal-03610074},
JOURNAL = {Clinical Genetics},
PUBLISHER = {Wiley},
VOLUME = {101},
NUMBER = {5-6},
PAGES = {494-506},
YEAR = {2022},
MONTH = May, DOI = {10.1111/cge.14123},
KEYWORDS = {anterior segment dysgenesis ; B3GLCT ; CNV ; FOXE3 ; microphthalmia ; PAX6 ; Peters' anomaly ; PITX3 ; SOX2},
PDF = {https://hal.science/hal-03610074/file/Chesneau%20et%20al.%20-%202022%20-%20First%20evidence%20of%20SOX2%20mutations%20in%20Peters%27%20anomal.pdf},
HAL_ID = {hal-03610074},
HAL_VERSION = {v1},
}