@article{uguen:hal-03131644,
TITLE = {A new case of Kaufman Oculocerebrofacial Syndrome caused by two new splicing variants in UBE3B.},
AUTHOR = {Uguen, K. and Ka, C. and Planes, M. and Audebert-Bellanger, S. and Redon, S. and Benech, C. and Kury, S. and Peudenier, S. and Autret, S. and Gourlaouen, I. and Bonneau, D. and Odent, S. and Bezieau, S. and Gilbert-Dussardier, B. and Boland, A. and Deleuze, J. and Le Marechal, C. and Le Gac, G. and Ferec, C.},
URL = {https://hal.science/hal-03131644},
JOURNAL = {European Journal of Human Genetics},
PUBLISHER = {Nature Publishing Group},
VOLUME = {28},
NUMBER = {SUPPL 1},
PAGES = {366-367},
YEAR = {2020},
HAL_ID = {hal-03131644},
HAL_VERSION = {v1},
}