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Clinical features associated with an I126M alpha 2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome
Journal of American Association for Pediatric Ophthalmology and Strabismus , 06/26/09

Murillo-Correa CE et al. - Considerable intrafamilial clinical variability was observed in this Duane syndrome pedigree that carried a alpha 2-chimaerin mutation. The presence of bilateral involvement and associated vertical movements, which commonly are observed in this and other DURS2 families, could suggest the occurrence of CHN1 mutations as the source of the disease in isolated or familial DURS cases.

Today in Basic Science/Genetics...keeping you current

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Spectrum and clinicomicrobiological profile of Nocardia keratitis caused by rare species of Nocardia identified by 16S rRNA gene sequencing
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Comparison of High-Resolution Melting Analysis with denaturing High-Performance Liquid Chromatography for Mutation Scanning in the ABCA4 gene
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Corneal and Refractive Astigmatism in Adults: A Power Vectors Analysis
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Academic Behaviors in Children with Convergence Insufficiency with and without Parent-Reported ADHD
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