Phenotype and Genotype in 52 Patients with Rubinstein-Taybi Syndrome Caused by EP300 Mutations
- Author(s):
- Fergelot, P.; Belzen, M. van; Gils, J. van; Afenjar, A.; Armour, C.M.; Arveiler, B.; Beets, L.; Burglen, L.; Busa, T.; Collet, M.; Deforges, J.; Vries, B.B.A. de; Garrido, E.D.; Dorison, N.; Dupont, J.; Francannet, C.; Garcia-Minaur, S.; Vila, E.G.; Gebre-Medhin, S.; Querol, B.G.; Genevieve, D.; Gerard, M.; Gervasini, C.G.; Goldenberg, A.; Josifova, D.; Lachlan, K.; Maas, S.; Maranda, B.; Moilanen, J.S.; Nordgren, A.; Parent, P.; Rankin, J.; Reardon, W.; Rio, M.; Roume, J.; Shaw, A.; Smigiel, R.; Sojo, A.; Solomon, B.; Stembalska, A.; Stumpel, C.; Suarez, F.; Terhal, P.; Thomas, S.; Touraine, R.; Verloes, A.; Vincent-Delorme, C.; Wincent, J.; Peters, D.J.M. (0000-0001-6974-7143); Bartsch, O.; Larizza, L.; Lacombe, D.; Hennekam, R.C.
- Published
- 2016
- Publication type
- Article / Letter to editor
EP300Rubinstein-Taybi syndromephenotypegenotypepre-eclampsia
- Date issued
- 2016-12-31
- Language
- English
- Is part of
- American Journal of Medical Genetics Part A (2016), Vol. 170, no. 12, p. 3069-3082
- hdl
- 1887/113747
- doi
- 10.1002/ajmg.a.37940