Publication
Unusually mild tuberous sclerosis phenotype is associated withTSC2R905Q mutation
An C. Jansen, Ozgur Sancak, Maria Daniela D'Agostino, Amanpreet Badhwar, Penelope Roberts, Gabriella Gobbi, Ralph Wilkinson, Denis Melanson, Donatella Tampieri, Robert Koenekoop, Mark Gans, Anneke Maat‐Kievit, Miriam Goedbloed, Ans M. W. van den Ouweland, Mark Nellist, Massimo Pandolfo, Mary McQueen, Katherine Sims, Elisabeth A. Thiele, François Dubeau, Frederick Andermann, David J. Kwiatkowski, Dicky J. J. Halley, Eva Andermann
Annals of Neurology, November 2006, Wiley
DOI: 10.1002/ana.21037