Article
CCDD Phenotype Associated with a Small Chromosome 2 Deletion.
Seminars in ophthalmology - 1 Jan 2015
Abu-Amero Khaled K, Bosley Thomas M, Kondkar Altaf A, Oystreck Darren T, Khan Arif O
Abstract excerpt
PURPOSE: Some individuals are born with congenital limitation of ocular motility, often associated with ptosis and retraction of the globe. Many of these disorders are now known as the congenital cranial dysinnervation disorders (CCDDs). While several genes have been associated with CCDD phenotypes, there are still patients for whom the genetic basis has not been identified. METHODS: Clinical evaluation and...
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