Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations

Patricia Fergelot, Martine Van Belzen, Julien Van Gils, Alexandra Afenjar, Christine M. Armour, Benoit Arveiler, Lex Beets, Lydie Burglen, Tiffany Busa, Marie Collet, Julie Deforges, Bert B. A. de Vries, Elena Dominguez Garrido, Nathalie Dorison, Juliette Dupont, Christine Francannet, Sixto Garcia-Minaur, Elisabeth Gabau Vila, Samuel Gebre-Medhin, Blanca Gener QuerolDavid Genevieve, Marion Gerard, Cristina Giovanna Gervasini, Alice Goldenberg, Dragana Josifova, Katherine Lachlan, Saskia Maas, Bruno Maranda, Jukka S. Moilanen, Ann Nordgren, Philippe Parent, Julia Rankin, Willie Reardon, Marlene Rio, Joelle Roume, Adam Shaw, Robert Smigiel, Amaia Sojo, Benjamin Solomon, Agnieszka Stembalska, Constance Stumpel, Francisco Suarez, Paulien Terhal, Simon Thomas, Renaud Touraine, Alain Verloes, Catherine Vincent-Delorme, Josephine Wincent, Dorien J. M. Peters, Oliver Bartsch, Lidia Larizza, Didier Lacombe, Raoul C. Hennekam

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)3069-3082
JournalAmerican Journal of Medical Genetics Part A
Volume170
Issue number12
DOIs
Publication statusPublished - Dec 2016

Keywords

  • EP300
  • Rubinstein-Taybi syndrome
  • phenotype
  • genotype
  • pre-eclampsia

Cite this

Fergelot, P., Van Belzen, M., Van Gils, J., Afenjar, A., Armour, C. M., Arveiler, B., Beets, L., Burglen, L., Busa, T., Collet, M., Deforges, J., de Vries, B. B. A., Dominguez Garrido, E., Dorison, N., Dupont, J., Francannet, C., Garcia-Minaur, S., Gabau Vila, E., Gebre-Medhin, S., ... Hennekam, R. C. (2016). Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations. American Journal of Medical Genetics Part A, 170(12), 3069-3082. https://doi.org/10.1002/ajmg.a.37940