Abrogation of HMX1 function causes rare oculo-auricular syndrome associated with congenital cataract, anterior segment dysgenesis & retinal dystrophy

Gillespie RL, Urquhart J, Lovell SC, Biswas S, Parry NR, Schorderet DF, Lloyd IC, Clayton-Smith J, Black GC. Abrogation of HMX1 function causes rare oculo-auricular syndrome associated with congenital cataract, anterior segment dysgenesis & retinal dystrophy. Invest Ophthalmol Vis Sci. 2015 Jan 8. pii: IOVS-14-15861. doi: 10.1167/iovs.14-15861. [Epub ahead of print].