@article{brioude:hal-01195734,
TITLE = {Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith--Wiedemann Syndrome: Clinical Spectrum and Functional Characterization},
AUTHOR = {Brioude, Frederic and Netchine, Ir{\`e}ne and Praz, Fran{\c c}oise and Le Jule, Marilyne and Calmel, Claire and Lacombe, Didier and Edery, Patrick and Catala, Martin and Odent, Sylvie and Isidor, Bertrand and Lyonnet, Stanislas and Sigaudy, Sabine and Leheup, Bruno and Audebert-Bellanger, S{\'e}verine and Burglen, Lydie and Giuliano, Fabienne and Alessandri, Jean-Luc and Cormier-Daire, Val{\'e}rie and Laffargue, Fanny and Blesson, Sophie and Coupier, Isabelle and Lespinasse, James and Blanchet, Patricia and Boute, Odile and Baumann, Clarisse and Polak, Michel and Doray, B{\'e}r{\'e}nice and Verloes, Alain and Viot, G{\'e}raldine and Le Bouc, Yves and Rossignol, Sylvie},
URL = {https://univ-rennes.hal.science/hal-01195734},
JOURNAL = {Human Mutation},
PUBLISHER = {Wiley},
VOLUME = {36},
NUMBER = {9},
PAGES = {894--902},
YEAR = {2015},
DOI = {10.1002/humu.22824},
KEYWORDS = {CDKN1C ; Beckwith--Wiedemann ; Cell Cycle ; overgrowth syndrome ; imprinting},
HAL_ID = {hal-01195734},
HAL_VERSION = {v1},
}