@article{lesieursebellin:hal-03481652,
TITLE = {Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series},
AUTHOR = {Lesieur-Sebellin, Marion and Till, Marianne and Khau van Kien, Philippe and Herve, B{\'e}r{\'e}nice and Bourgon, Nicolas and Dupont, C{\'e}line and Tabet, Anne-Claude and Barrois, Mathilde and Coussement, Aur{\'e}lie and Loeuillet, Laurence and Mousty, Eve and Ea, Vuthy and El Assal, Amal and Mary, Laura and Jaillard, Sylvie and Beneteau, Claire and Le Vaillant, Claudine and Coutton, Charles and Devillard, Fran{\c c}oise and Goumy, Carole and Delabaere, Am{\'e}lie and Redon, Sylvia and Laurent, Yves and Lamouroux, Audrey and Massardier, J{\'e}r{\^o}me and Turleau, Catherine and Sanlaville, Damien and Cantagrel, Vincent and Sonigo, Pascale and Vialard, Fran{\c c}ois and Salomon, Laurent J and Malan, Val{\'e}rie},
URL = {https://hal.science/hal-03481652},
JOURNAL = {Prenatal Diagnosis},
HAL_LOCAL_REFERENCE = {RHUMA},
PUBLISHER = {Wiley},
VOLUME = {42},
NUMBER = {1},
PAGES = {118-135},
YEAR = {2022},
MONTH = Jan, DOI = {10.1002/pd.6074},
KEYWORDS = {deletions ; brain malformations ; pathogenic variants ; phenotype mimicking heterozygous},
HAL_ID = {hal-03481652},
HAL_VERSION = {v1},
}