@article{cuvertino:hal-01699166,
TITLE = {ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder},
AUTHOR = {Cuvertino, Sara and Stuart, Helen M. and Chandler, Kate E. and Roberts, Neil A. and Armstrong, Ruth and Bernardini, Laura and Bhaskar, Sanjeev and Callewaert, Bert and Clayton-Smith, Jill and Davalillo, Cristina Hernando and Deshpande, Charu and Devriendt, Koenraad and Digilio, Maria C. and Dixit, Abhijit and Edwards, Matthew and Friedman, Jan M. and Gonzalez-Meneses, Antonio and Joss, Shelagh and Kerr, Bronwyn and Lampe, Anne Katrin and Langlois, Sylvie and Lennon, Rachel and Loget, Philippe and Ma, David Y. T. and Mcgowan, Ruth and Des Medt, Maryse and O'Sullivan, James and Odent, Sylvie and Parker, Michael J. and Pebrel-Richard, C{\'e}line and Petit, Florence and Stark, Zornitza and Stockler-Ipsiroglu, Sylvia and Tinschert, Sigrid and Vasudevan, Pradeep and Villa, Olaya and White, Susan M. and Zahir, Farah R. and Study, Ddd and Woolf, Adrian S. and Banka, Siddharth},
URL = {https://univ-rennes.hal.science/hal-01699166},
JOURNAL = {American Journal of Human Genetics},
PUBLISHER = {Elsevier (Cell Press)},
VOLUME = {101},
NUMBER = {6},
PAGES = {1021-1033},
YEAR = {2017},
MONTH = Dec, DOI = {10.1016/j.ajhg.2017.11.006},
KEYWORDS = {Abnormalities ; Multiple ; ACTB ; Actins ; Adolescent ; Adult ; Aged ; Animals ; Cell Cycle ; Cell Proliferation ; Child ; Preschool ; chromatin ; Codon ; Nonsense ; Coloboma ; Developmental Disabilities ; developmental disorder ; Facies ; Female ; Frameshift Mutation ; Gene Deletion ; Haploinsufficiency ; Humans ; Infant ; Newborn ; Intellectual Disability ; Male ; malformations ; Malformations of Cortical Development ; Mice ; RNA Interference ; RNA ; Small Interfering ; Young Adult ; $\beta$-actin},
PDF = {https://univ-rennes.hal.science/hal-01699166/file/Couvertino_ACTB%20Loss-of-Function.pdf},
HAL_ID = {hal-01699166},
HAL_VERSION = {v1},
}