SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
P Bakrania, D O Robinson, D J Bunyan, A Salt, A Martin, J A Crolla, A Wyatt, A Fielder, J Ainsworth, A Moore, S Read, J Uddin, D Laws, D Pascuel-Salcedo, C Ayuso, L Allen, J R O Collin, N K Ragge
British Journal of Ophthalmology Nov 2007, 91 (11) 1471-1476; DOI: 10.1136/bjo.2007.117929
