Associated Papers
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.
Ansar M et al.
Ophthalmic Genetics, 2022
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.
Gillespie RL et al.
Investigative Ophthalmology & Visual Science, 2015
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