Article
Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula.
Ophthalmic genetics - 1 Mar 2008
Khan Arif O, Khalil Dania S, Al-Tassan Nada A
Abstract excerpt
PURPOSE: To assess for KIF21A mutation in the first two reported Saudi Arabian families with the classic phenotype of congenital fibrosis of the extraocular muscles type I (CFEOM1). METHODS: Clinical examination and genetic testing by amplification refractory mutation system (ARMS) assay for KIF21A R954W, the most common KIF21A mutation worldwide. RESULTS: Clinical examination was consistent with classic CFEOM1...
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