Article
Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome.
Investigative ophthalmology & visual science - 1 Dec 2007
Demer Joseph L, Clark Robert A, Lim Key Hwan, Engle Elizabeth C
Abstract excerpt
PURPOSE: The authors used magnetic resonance imaging (MRI) to study extraocular muscles (EOMs) and nerves in Duane-radial ray (Okihiro) syndrome (DRRS) caused by mutations in the transcription factor SALL4. METHODS: The authors examined four male and two female affected members of a pedigree previously reported to cosegregate DRRS and a heterozygous SALL4 mutation. Coronal T1-weighted magnetic resonance images of...
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