@article{jedraszak:hal-04302624,
TITLE = {Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases},
AUTHOR = {Jedraszak, Guillaume and Jobic, Florence and Receveur, Aline and Bilan, Fr{\'e}d{\'e}ric and Gilbert-Dussardier, Brigitte and Missirian, Chantal and Willems, Marjolaine and Odent, Sylvie and Lucas, Josette and Dubourg, Christele and Schaefer, Elise and Scheidecker, Sophie and Lespinasse, James and Goldenberg, Alice and Guerrot, Anne-Marie and Joly-Helas, G{\'e}raldine and Chambon, Pascal and Le Caignec, C{\'e}dric and David, Albert and Coutton, Charles and Satre, V{\'e}ronique and Vieville, Ga{\"e}lle and Amblard, Florence and Harbuz, Radu and Sanlaville, Damien and Till, Marianne and Vincent-Delorme, Catherine and Colson, Cindy and Andrieux, Joris and Naudion, Sophie and Toutain, J{\'e}rome and Rooryck-Thambo, Caroline and de Fr{\'e}minville, B{\'e}n{\'e}dicte and Prieur, Fabienne and Daire, Val{\'e}rie Cormier and Amram, Daniel and Kleinfinger, Pascale and Schulze, Matthias and Raabe-Meyer, Gisela and Courage, Carolina and Lemke, Johannes and Stefanou, Eunice and Loretta, Thomaidis and Emmanouil, Manolakos and Tzeli, Sophia Kitsiou and Sodowska, Henryka and Anderson, Jasen and Nandini, Adayapalam and Copin, Henri and Gar{\c c}on, Lo{\"i}c and Liehr, Thomas and Morin, Gilles},
URL = {https://univ-rennes.hal.science/hal-04302624},
JOURNAL = {American Journal of Medical Genetics Part A},
PUBLISHER = {Wiley},
YEAR = {2023},
MONTH = Nov, DOI = {10.1002/ajmg.a.63476},
KEYWORDS = {22q11.2 region ; FISH ; array-CGH ; cat eye syndrome ; congenital heart disease ; eye anomalies ; familial disease ; heart defect ; mosacism ; parental transmission ; small supernumerary marker chromosome (sSMC)},
HAL_ID = {hal-04302624},
HAL_VERSION = {v1},
}