Article
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.
Investigative ophthalmology & visual science - 8 Jan 2015
Gillespie Rachel L, Urquhart Jill, Lovell Simon C, Biswas Susmito, Parry Neil R A, Schorderet Daniel F, Lloyd I Chris, Clayton-Smith Jill, Black Graeme C
Abstract excerpt
PURPOSE: To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS: Two individuals from a consanguineous family underwent comprehensive clinical phenotyping and electrodiagnostic testing (EDT). Genome-wide microarray analysis and Sanger sequencing of the candidate gene were used to identify the likely causal...
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