@article{cordeddu:hal-01225504,
TITLE = {Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome},
AUTHOR = {Cordeddu, Viviana and Yin, Jiani C. and Gunnarsson, Cecilia and Virtanen, Carl and Drunat, S{\'e}verine and Lepri, Francesca and de Luca, Alessandro and Rossi, Cesare and Ciolfi, Andrea and Pugh, Trevor J. and Bruselles, Alessandro and Priest, James R. and Pennacchio, Len A. and Lu, Zhibin and Danesh, Arnavaz and Quevedo, Rene and Hamid, Alaa and Martinelli, Simone and Pantaleoni, Francesca and Gnazzo, Maria and Daniele, Paola and Lissewski, Christina and Bocchinfuso, Gianfranco and Stella, Lorenzo and Odent, Sylvie and Philip, Nicole and Faivre, Laurence and Vlckova, Marketa and Seemanova, Eva and Digilio, Cristina and Zenker, Martin and Zampino, Giuseppe and Verloes, Alain and Dallapiccola, Bruno and Roberts, Amy E. and Cav{\'e},
H{\'e}l{\`e}ne and Gelb, Bruce D. and Neel, Benjamin G. and Tartaglia, Marco},
URL = {https://univ-rennes.hal.science/hal-01225504},
JOURNAL = {Human Mutation},
PUBLISHER = {Wiley},
VOLUME = {36},
NUMBER = {11},
PAGES = {1080--1087},
YEAR = {2015},
DOI = {10.1002/humu.22834},
KEYWORDS = {genotype-phenotype correlations ; Noonan syndrome ; RAS signaling ; SOS2},
HAL_ID = {hal-01225504},
HAL_VERSION = {v1},
}