The second case of Noonan syndrome phenotype due to a rare p.S427G germline mutation in RAF1 with no occurrence of a malignant tumor
Authors: M. Pelc, E. Ciara, S. Łuczak, J. Trubicka, D. Piekutowska-Abramczuk, D. Jurkiewicz, P. Kowalski, M. Borucka-Mankiewicz, K. Chrzanowska, M. Krajewska-Walasek
Published in: Third International Meeting on Genetic Syndromes of the Ras/MAPK Pathway: Towards a Therapeutic Approach
Publication type: conference