Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
J M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, S Grünewald, I Anselm, H Azzouz, D Bratkovic, A de Brouwer, B Hamel, T Kleefstra, H Yntema, J Campistol, M A Vilaseca, D Cheillan, M D’Hooghe, L Diogo, P Garcia, C Valongo, M Fonseca, S Frints, B Wilcken, S von der Haar, H E Meijers-Heijboer, F Hofstede, D Johnson, S G Kant, L Lion-Francois, G Pitelet, N Longo, J A Maat-Kievit, J P Monteiro, A Munnich, A C Muntau, M C Nassogne, H Osaka, K Ounap, J M Pinard, S Quijano-Roy, I Poggenburg, N Poplawski, O Abdul-Rahman, A Ribes, A Arias, J Yaplito-Lee, A Schulze, C E Schwartz, S Schwenger, G Soares, Y Sznajer, V Valayannopoulos, H Van Esch, S Waltz, M M C Wamelink, P J W Pouwels, A Errami, M S van der Knaap, C Jakobs, G M Mancini, G S Salomons
Journal of Medical Genetics Jul 2013, 50 (7) 463-472; DOI: 10.1136/jmedgenet-2013-101658
