@article{barathouari:hal-01239808,
TITLE = {The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype},
AUTHOR = {Barat-Houari, Mouna and Dumont, Bruno and Fabre, Aurelie J and Them, Fr{\'e}d{\'e}ric Tm and Alembik, Yves and Alessandri, Jean-Luc and Amiel, Jeanne and Audebert, S{\'e}verine and Baumann-Morel, Clarisse and Blanchet, Patricia and Bieth, Eric and Brechard, Marie and Busa, Tiffany and Calvas, Patrick and Capri, Yline and Cartault, Francois and Chassaing, Nicolas and Ciorca, Vidrica and Coubes, Christine and David, Albert and Delezoide, Anne-Lise and Dupin-Deguine, Delphine and El Chehadeh, Salima and Faivre, Laurence and Giuliano, Fabienne and Goldenberg, Alice and Isidor, Bertrand and Jacquemont, Marie-Line and Julia, Sophie and Kaplan, Josseline and Lacombe, Didier and Lebrun, Marine and Marlin, Sandrine and Martin-Coignard, Dominique and Martinovic, Jelena and Masurel, Alice and Melki, Judith and Mozelle-Nivoix, Monique and Nguyen, Karine and Odent, Sylvie and Philip, Nicole and Pinson, Lucile and Plessis, Ghislaine and Qu{\'e}lin, Chlo{\'e} and Shaeffer, Elise and Sigaudy, Sabine and Thauvin, Christel and Till, Marianne and Touraine, Renaud and Vigneron, Jacqueline and Baujat, Genevi{\`e}ve and Cormier-Daire, Val{\'e}rie and Le Merrer, Martine and Genevi{\`e}ve, David and Touitou, Isabelle},
URL = {https://univ-rennes.hal.science/hal-01239808},
JOURNAL = {European Journal of Human Genetics},
PUBLISHER = {Nature Publishing Group},
VOLUME = {24},
NUMBER = {7},
PAGES = {992-1000},
YEAR = {2016},
MONTH = Jul, DOI = {10.1038/ejhg.2015.250},
PDF = {https://univ-rennes.hal.science/hal-01239808/file/ejhg2015250a.pdf},
HAL_ID = {hal-01239808},
HAL_VERSION = {v1},
}