@article{courcet:hal-01064380,
TITLE = {Clinical and molecular spectrum of renal malformations in Kabuki syndrome},
AUTHOR = {Courcet, Jean-Beno{\^i}t and Faivre, Laurence and Michot, Caroline and Burguet, Antoine and Perez-Martin, St{\'e}phanie and Alix, Eudeline and Amiel, Jeanne and Baumann, Clarisse and Cordier, Marie-Pierre and Cormier-Daire, Val{\'e}rie and Delrue, Marie Ange and Gilbert-Dussardier, Brigitte and Goldenberg, Alice and Jacquemont, Marie-Line and Jaquette, Aur{\'e}lia and Kayirangwa, Honorine and Lacombe, Didier and Le Merrer, Martine and Toutain, Annick and Odent, Sylvie and Moncla, Anne and Pelet, Anna and Philip, Nicole and Pinson, Lucille and Poisson, Sylvain and Kim-Han, Le Quan Sang and Roume, Joelle and Sanchez, Elodie and Willems, Marjolaine and Till, Marianne and Vincent-Delorme, Catherine and Mousson, Christiane and Vinault, Sandrine and Binquet, Christine and Huet, Fr{\'e}d{\'e}ric and Sarda, Pierre and Salomon, R{\'e}mi and Lyonnet, Stanislas and Sanlaville, Damien and Genevi{\`e}ve, David},
URL = {https://hal.science/hal-01064380},
JOURNAL = {The Journal of Pediatrics},
PUBLISHER = {Elsevier},
VOLUME = {163},
NUMBER = {3},
PAGES = {742--746},
YEAR = {2013},
DOI = {10.1016/j.jpeds.2013.02.032},
KEYWORDS = {Abnormalities ; Multiple ; Adolescent ; Adult ; Biological Markers ; Child ; Preschool ; Cohort Studies ; Creatinine ; DNA-Binding Proteins ; Face ; Female ; France ; Genetic Association Studies ; Genetic Markers ; Genotyping Techniques ; Glomerular Filtration Rate ; Hematologic Diseases ; Histone Demethylases ; Humans ; Infant ; Kidney ; Male ; Neoplasm Proteins ; Nuclear Proteins ; Retrospective Studies ; Vestibular Diseases ; Young Adult},
HAL_ID = {hal-01064380},
HAL_VERSION = {v1},
}