Oculoauricular Syndrome
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References
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 Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy. Invest Ophthalmol Vis Sci. 2015 Jan 8;56(2):883-91.
PubMedID: 25574057
Vaclavik V, Schorderet DF, Borruat FX, Munier FL. Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation. Ophthalmic Genet. 2011 Jun;32(2):114-7.
PubMedID: 21417677
Schorderet DF, Nichini O, Boisset G, Polok B, Tiab L, Mayeur H, Raji B, de la Houssaye G, Abitbol MM, Munier FL. Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. Am J Hum Genet. 2008 May;82(5):1178-84.
PubMedID: 18423520