@article{uguen:hal-03282329,
TITLE = {Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly},
AUTHOR = {Uguen, K{\'e}vin and Krysiak, Kilannin and Audebert-Bellanger, S{\'e}verine and Redon, Sylvia and Benech, Caroline and Viora-Dupont, El{\'e}onore and Tran Mau-Them, Frederic and Rondeau, Sophie and Elsharkawi, Ibrahim and Granadillo, Jorge L and Neidich, Julie and Soares, Celia Azevedo and Tkachenko, Nat{\'a}liya and M Amudhavalli, Shivarajan and Engleman, Kendra and Boland, Anne and Deleuze, Jean-Fran{\c c}ois and Bezieau, St{\'e}phane and Odent, Sylvie and Toutain, Annick and Bonneau, Dominique and Gilbert-Dussardier, Brigitte and Faivre, Laurence and Rio, Marl{\`e}ne and Le Marechal, Cedric and Ferec, Claude and Repnikova, Elena and Cao, Yang},
URL = {https://hal.science/hal-03282329},
JOURNAL = {Clinical Genetics},
PUBLISHER = {Wiley},
VOLUME = {100},
NUMBER = {4},
PAGES = {386-395},
YEAR = {2021},
MONTH = Jun, DOI = {10.1111/cge.14015},
KEYWORDS = {HMGB1 ; developmental disabilities ; dysmorphic features ; loss of function mutation},
HAL_ID = {hal-03282329},
HAL_VERSION = {v1},
}