Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
F Lacbawan, B D Solomon, E Roessler, K El-Jaick, S Domené, J I Vélez, N Zhou, D Hadley, J Z Balog, R Long, A Fryer, W Smith, S Omar, S D McLean, K Clarkson, A Lichty, N J Clegg, M R Delgado, E Levey, E Stashinko, L Potocki, M I VanAllen, J Clayton-Smith, D Donnai, D W Bianchi, P B Juliusson, P R Njølstad, H G Brunner, J C Carey, U Hehr, J Müsebeck, P F Wieacker, A Postra, R C M Hennekam, M-J H van den Boogaard, A van Haeringen, A Paulussen, J Herbergs, C T R M Schrander-Stumpel, A R Janecke, D Chitayat, J Hahn, D M McDonald-McGinn, E H Zackai, W B Dobyns, M Muenke
Journal of Medical Genetics Jun 2009, 46 (6) 389-398; DOI: 10.1136/jmg.2008.063818