@article{harion:hal-03837222,
TITLE = {New insights into CC2D2A -related Joubert syndrome},
AUTHOR = {Harion, Madeleine and Qebibo, Leila and Riquet, Audrey and Rougeot, Christelle and Afenjar, Alexandra and Garel, Catherine and Louha, Malek and Lacaze, Emmanuelle and Audic-G{\'e}rard, Fr{\'e}d{\'e}rique and Barth, Magali and Berquin, Patrick and Bonneau, Dominique and Bourdain, Fr{\'e}d{\'e}ric and Busa, Tiffany and Colin, Estelle and Cuisset, Jean-Marie and Des Portes, Vincent and Dorison, Nathalie and Francannet, Christine and H{\'e}ron, B{\'e}n{\'e}dicte and Laroche, C{\'e}cile and Lebrun, Marine and M{\'e}treau, Julia and Odent, Sylvie and Pasquier, Laurent and Trujillo, Yaumara Perdomo and Perrin, Laurine and Pinson, Lucile and Rivier, Francois and Sigaudy, Sabine and Thauvin-Robinet, Christel and Louvier, Ulrike Walther and Labayle, Olivier and Rodriguez, Diana and Valence, St{\'e}phanie and Burglen, Lydie},
URL = {https://hal.science/hal-03837222},
JOURNAL = {Journal of Medical Genetics},
PUBLISHER = {BMJ Publishing Group},
PAGES = {jmedgenet-2022-108754},
YEAR = {2022},
MONTH = Nov, DOI = {10.1136/jmg-2022-108754},
KEYWORDS = {Cerebellar diseases ; Genetic testing ; Genotype ; Nervous system malformations ; Phenotype},
PDF = {https://hal.science/hal-03837222/file/2022%20Harion%20et%20al.%2C%20New%20Insights.pdf},
HAL_ID = {hal-03837222},
HAL_VERSION = {v1},
}