Heterozygous mutations of OTX2 cause severe ocular malformations

Nicola K Ragge, Alison G Brown, Charlotte M Poloschek, Birgit Lorenz, R Alex Henderson, Michael P Clarke, Isabelle Russell-Eggitt, Alistair Fielder, Dianne Gerrelli, Juan Pedro Martinez-Barbera, Piers Ruddle, Jane Hurst, J Richard O Collin, Alison Salt, Simon T Cooper, Pamela J Thompson, Sanjay M Sisodiya, Kathleen A Williamson, David R Fitzpatrick, Veronica van HeyningenIsabel M Hanson

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Medicine & Life Sciences