Article
Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.
Ophthalmic genetics - 1 Jun 2011
Vaclavik V, Schorderet D F, Borruat F-X, Munier F L
Abstract excerpt
PURPOSE: To report on the clinical and electrophysiological findings in a patient with oculo-auricular syndrome due to HMX1 mutation, with a follow-up of 12 years. BACKGROUND: Oculo-auricular syndrome (MIM: 612109) is a rare developmental recessive condition affecting the eye and external ear that results from a mutation in the HMX1 gene. Previously described ocular abnormalities include bilateral microcornea,...
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