@article{baselvanagaite:pasteur-01375146, TITLE = {{Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome}}, AUTHOR = {Basel-Vanagaite, Lina and Dallapiccola, Bruno and Ramirez-Solis, Ramiro and Segref, Alexandra and Thiele, Holger and Edwards, Andrew and Arends, Mark J. and Miro, Xavier and White, Jacqueline K. and Desir, Julie and Abramowicz, Marc and Dentici, Maria Lisa and Lepri, Francesca and Hofmann, Kay and Har-Zahav, Adi and Ryder, Edward and Karp, Natasha A. and Estabel, Jeanne and Gerdin, Anna-Karin B. and Podrini, Christine and Ingham, Neil J. and Altmueller, Janine and Nuernberg, Gudrun and Frommolt, Peter and Abdelhak, Sonia and Pasmanik-Chor, Metsada and Konen, Osnat and Kelley, Richard I. and Shohat, Mordechai and Nuernberg, Peter and Flint, Jonathan and Steel, Karen P. and Hoppe, Thorsten and Kubisch, Christian and Adams, David J. and Borck, Guntram}, URL = {https://riip.hal.science/pasteur-01375146}, JOURNAL = {{American Journal of Human Genetics}}, PUBLISHER = {{Elsevier (Cell Press)}}, VOLUME = {91}, NUMBER = {6}, PAGES = {998-1010}, YEAR = {2012}, MONTH = Dec, DOI = {10.1016/j.ajhg.2012.10.011}, PDF = {https://riip.hal.science/pasteur-01375146/file/Basel-Vanagaite_AJHG_2012.pdf}, HAL_ID = {pasteur-01375146}, HAL_VERSION = {v1}, }