@article{couloigner:hal-03930818,
TITLE = {A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature},
AUTHOR = {Couloigner, Lo{\"i}c and Planes, Marc and Ka, Chandran and Audebert-Bellanger, S{\'e}verine and Redon, Sylvia and Benech, Caroline and Rouault, Karen and K{\"u}ry, Sebastien and Peudenier, Sylviane and Autret, Sandrine and Gourlaouen, Isabelle and Bonneau, Dominique and Odent, Sylvie and B{\'e}zieau, St{\'e}phane and Gilbert-Dussardier, Brigitte and Toutain, Annick and Boland, Anne and Deleuze, Jean-Fran{\c c}ois and Le Marechal, C{\'e}dric and Le Gac, G{\'e}rald and Ferec, Claude and Uguen, Kevin},
URL = {https://univ-rennes.hal.science/hal-03930818},
JOURNAL = {Clinical Genetics},
PUBLISHER = {Wiley},
VOLUME = {103},
NUMBER = {3},
PAGES = {377-379},
YEAR = {2023},
MONTH = Mar, DOI = {10.1111/cge.14270},
HAL_ID = {hal-03930818},
HAL_VERSION = {v1},
}