Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene by Isidor, B., Podevin, G., Camby, C., Mosnier, J.-F., Chauty, A., Lyet, J.-M., Fergelot, P., Lacombe, D., Arveiler, B., Pelet, A., Amiel, J., David, A.

Get full text